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Autosomal recessive

Monogenic disorders list based on single and multiple genes

Disorder Name (Total=311)	Aliases	Category	Gene	Indian Reports	Link
Farber lipogranulomatosis	• Farber disease	Metabolic disorders/Lysosomal storage disorders	ASAH1 N-acylsphingosine amidohydrolase 1	Reports Updated as of Sep 15, 2022	PubMed
Canavan disease	• Spongy degeneration of central nervous system • Aspartoacylase deficiency • ACY2 deficiency • ASP deficiency • Aminoacylase 2 deficiency • Canavan-van Bogaert-Bertrand disease • Von Bogaert-Bertrand disease	Neurodegenerative disorders	ASPA aspartoacylase	Reports Updated as of Sep 15, 2022	PubMed
Ataxia-telangiectasia syndrome	• Louis-Bar syndrome • Ataxia-telangiectasia • Ataxia-telangiectasia, complementation group D • Ataxia-telangiectasia, complementation group E • Cerebello-oculocutaneous telangiectasia • Immunodeficiency with ataxia telangiectasia	Neurodegenerative disorders	ATM ATM serine/threonine kinase	Reports Updated as of Sep 15, 2022	PubMed
Biotinidase deficiency	• Juvenile-onset multiple carboxylase deficiency • Late-onset multiple carboxylase deficiency • Biotin deficiency • BTD deficiency • Late-onset biotin-responsive multiple carboxylase deficiency	Metabolic disorders	BTD biotinidase	Reports Updated as of Sep 15, 2022	PubMed
Diastrophic dysplasia	• Diastrophic dwarfism	Bone disorders	SLC26A2 solute carrier family 26 member 2	Reports Updated as of Sep 15, 2022	PubMed
Glycogen storage disease, type II	• Pompe disease • Glycogen storage disease due to acid maltase deficiency	Metabolic disorders/Lysosomal storage disorders	GAA alpha glucosidase PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Reports Updated as of Sep 15, 2022	PubMed
Tay-Sachs disease	• Hexosaminidase A deficiency • GM2 gangliosidosis, B, B1 variant • GM2 gangliosidosis, type 1 • HexA deficiency • Hexosaminidase alpha-subunit deficiency (variant B) • Sphingolipidosis, Tay-Sachs	Metabolic disorders/Lysosomal storage disorders	GM2A ganglioside GM2 activator HEXA hexosaminidase subunit alpha	Reports Updated as of Sep 15, 2022	PubMed
Alkaptonuria	• Homogentisic acid oxidase deficiency • Hereditary ochronosis • Alkaptonuric ochronosis • Homogentisic acidura • Alcaptonuria • Ochronosis, hereditary	Metabolic disorders	HGD homogentisate 1,2-dioxygenase	Reports Updated as of Sep 15, 2022	PubMed
Phenylketonuria	• Phenylalanine hydroxylase deficiency • Phenylketonurias • Folling disease • Oligophrenia phenylpyruvica	Metabolic disorders	PAH phenylalanine hydroxylase COL1A1 collagen type I alpha 1 chain	Reports Updated as of Sep 15, 2022	PubMed
Autosomal recessive polycystic kidney disease	• AR polycystic kidney disease • Polycystic kidney disease, infantile type • AR-PKD	Nephrological disorders	PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin PKD2 polycystin 2, transient receptor potential cation channel PKD1 polycystin 1, transient receptor potential channel interacting CYS1 cystin 1	Reports Updated as of Sep 15, 2022	PubMed
Metaphyseal chondrodysplasia, McKusick type	• Cartilage hair hypoplasia • Cartilage-hair hypoplasia • McKusick type	Immune disorders	RMRP RNA component of mitochondrial RNA processing endoribonuclease	Reports Updated as of Sep 15, 2022	PubMed
Niemann-Pick disease, type B	• Chronic visceral acid sphingomyelinase deficiency	Metabolic disorders/Lysosomal storage disorders	SMPD1 sphingomyelin phosphodiesterase 1	Reports Updated as of Sep 15, 2022	PubMed
Chorea-acanthocytosis	• Levine-Critchley syndrome • Acanthocytosis with neurologic disorder • Choreaacanthocytosis • Choreoacanthocytosis • ChAc	Neurodegenerative disorders	VPS13A vacuolar protein sorting 13 homolog A	Reports Updated as of Sep 15, 2022	PubMed
Crigler-Najjar syndrome type 1	• Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 • Bilirubin-UGT deficiency type 1 • Bilirubin	Metabolic disorders	UGT1A1 UDP glucuronosyltransferase family 1 member A1	Reports Updated as of Sep 15, 2022	PubMed
Lethal osteosclerotic bone dysplasia	• Raine syndrome • Raine syndrome • Osteosclerotic bone dysplasia	Bone disorders	FAM20C FAM20C golgi associated secretory pathway kinase	Reports Updated as of Sep 15, 2022	PubMed
Spinal muscular atrophy 1	• Werdnig-Hoffmann disease • Muscular atrophy, infantile • SMA I	Neuromuscular disorders	SMN1 survival of motor neuron 1, telomeric SMN2 survival of motor neuron 2, centromeric	Reports Updated as of Sep 15, 2022	PubMed
Adisons disease		Endocrine disorders	PTPN22 protein tyrosine phosphatase non-receptor type 22 HLA-B major histocompatibility complex, class I, B HLA-DRB1 major histocompatibility complex, class II, DR beta 1	Reports Updated as of Mar 09, 2023	PubMed
Gaucher disease	• Glucocerebrosidosis • Acute cerebral Gaucher disease • Glucocerebrosidase deficiency • Cerebroside lipidosis syndrome • Glucosyl cerebroside lipidosis • Glucosylceramidase deficiency • Kerasin lipoidosis • Kerasin thesaurismosis • Sphingolipidosis 1 • Gaucher splenomegaly • Acid beta-glucosidase deficiency	Metabolic disorders/Lysosomal storage disorders	GBA1 glucosylceramidase beta 1 PSAP prosaposin MSH6 mutS homolog 6	Reports Updated as of Mar 09, 2023	PubMed
GM1 gangliosidosis type 2	• GM2 gangliosidosis	Metabolic disorders/Lysosomal storage disorders	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
Celiac disease		Gastrointestinal disorders	CTLA4 cytotoxic T-lymphocyte associated protein 4 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1	Reports Updated as of Mar 09, 2023	PubMed
Usher syndrome	• Retinitis pigmentosa-deafness syndrome • Retinitis pigmentosa-hearing loss syndrome • Usher Syndromes • Usher's syndrome • USH	Eye disorders / Ear disorders	USH2A usherin WHRN whirlin USH1G USH1 protein network component sans CLRN1 clarin 1 CDH23 cadherin related 23 PCDH15 protocadherin related 15 USH1C USH1 protein network component harmonin ADGRV1 adhesion G protein-coupled receptor V1 MYO7A myosin VIIA HARS1 histidyl-tRNA synthetase 1 PDZD7 PDZ domain containing 7 CIB2 calcium and integrin binding family member 2 PROM1 prominin 1 ESPN espin ARSG arylsulfatase G SLC9B1 solute carrier family 9 member B1	Reports Updated as of Mar 09, 2023	PubMed
Finnish congenital nephrotic syndrome	• Congenital nephrotic syndrome • Finnish congenital nephrosis • Congenital nephrotic syndrome, Finnish type	Nephrological disorders	NPHS1 NPHS1 adhesion molecule, nephrin FAT1 FAT atypical cadherin 1	Reports Updated as of Mar 09, 2023	PubMed
Autosomal recessive Robinow syndrome	• Robinow syndrome	Bone disorders	ROR2 receptor tyrosine kinase like orphan receptor 2	Reports Updated as of Mar 09, 2023	PubMed
Maple syrup urine disease	• Branched-chain 2-ketoacid dehydrogenase deficiency • BCKD deficiency • BCKDH deficiency • Branched-chain ketoaciduria • MSUD	Metabolic disorders	BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha BCKDHB branched chain keto acid dehydrogenase E1 subunit beta DBT dihydrolipoamide branched chain transacylase E2	Reports Updated as of Mar 09, 2023	PubMed
Sudden infant death syndrome		Metabolic disorders	KCNQ1 potassium voltage-gated channel subfamily Q member 1 KCNH2 potassium voltage-gated channel subfamily H member 2 SCN5A sodium voltage-gated channel alpha subunit 5 SCN4B sodium voltage-gated channel beta subunit 4 SCN1A sodium voltage-gated channel alpha subunit 1 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit CALM2 calmodulin 2	Reports Updated as of Mar 09, 2023	PubMed
Lamellar ichthyosis		Skin disorders	TGM1 transglutaminase 1 ABCA12 ATP binding cassette subfamily A member 12 SLC27A4 solute carrier family 27 member 4 NIPAL4 NIPA like domain containing 4 CYP4F22 cytochrome P450 family 4 subfamily F member 22 ALOX12B arachidonate 12-lipoxygenase, 12R type CERS3 ceramide synthase 3 PNPLA1 patatin like phospholipase domain containing 1 ALOXE3 arachidonate lipoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
CFH-Related dense deposit disease	• Dense deposit disease	Nephrological disorders	CFHR5 complement factor H related 5 CFH complement factor H	Reports Updated as of Mar 09, 2023	PubMed
Acromesomelic dysplasia		Bone disorders	BMPR1B bone morphogenetic protein receptor type 1B GDF5 growth differentiation factor 5 NPR2 natriuretic peptide receptor 2 ANK2 ankyrin 2 PRKG2 protein kinase cGMP-dependent 2	Reports Updated as of Mar 09, 2023	PubMed
Qualitative or quantitative defects of dysferlin	• Dysferlinopathy	Neuromuscular disorders	DYSF dysferlin	Reports Updated as of Mar 09, 2023	PubMed
Deficiency of ferroxidase	• Aceruloplasminemia • Hereditary ceruloplasmin deficiency	Metabolic disorders	CP ceruloplasmin	Reports Updated as of Mar 09, 2023	PubMed
Protein-losing enteropathy	• Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy [CHAPLE] • CHAPLE syndrome	Gastrointestinal disorders	CD55 CD55 molecule (Cromer blood group)	Reports Updated as of Mar 09, 2023	PubMed
Trimethylaminuria	• Fish odor syndrome • Severe primary trimethylaminuria • TMAU	Metabolic disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
Sjogren Syndrome	• Sjögren’s Syndrome	Immune disorders	IRF5 interferon regulatory factor 5	Reports Updated as of Mar 09, 2023	PubMed
Netherton syndrome		Skin disorders	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Mar 09, 2023	PubMed
Cockayne syndrome		Neurodegenerative disorders	ERCC6 ERCC excision repair 6, chromatin remodeling factor ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ERCC4 ERCC excision repair 4, endonuclease catalytic subunit	Reports Updated as of Mar 09, 2023	PubMed
Achalasia cardia		Gastrointestinal disorders	NOS1 nitric oxide synthase 1 VIP vasoactive intestinal peptide AAAS aladin WD repeat nucleoporin CRLF1 cytokine receptor like factor 1	Reports Updated as of Mar 09, 2023	PubMed
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome		Bone disorders	PRG4 proteoglycan 4	Reports Updated as of Mar 09, 2023	PubMed
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	• CA-VA deficiency	Metabolic disorders	CA5A carbonic anhydrase 5A	Reports Updated as of Mar 09, 2023	PubMed
Cholestanol storage disease	• Cerebrotendinous xanthomatosis • Cholestanolosis • Cerebral cholesterinosis	Metabolic disorders/Lysosomal storage disorders	CYP27A1 cytochrome P450 family 27 subfamily A member 1	Reports Updated as of Mar 09, 2023	PubMed
Triglyceride storage disease with ichthyosis	• Dorfman-Chanarin disease • Neutral Lipid Storage Disease With Ichthyosis	Metabolic disorders/Lysosomal storage disorders	ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	Reports Updated as of Mar 09, 2023	PubMed
Spondyloepiphyseal dysplasia with congenital joint dislocations	• CHST3-related skeletal dysplasia • Chondrodysplasia with congenital joint dislocations	Bone disorders	CHST3 carbohydrate sulfotransferase 3	Reports Updated as of Mar 09, 2023	PubMed
Cystinosis	• Protein defect of cystin transport • Cystine diathesis • Cystine disease • Cystine storage disease • Cystinoses	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Mar 09, 2023	PubMed
Multiple acyl-CoA dehydrogenase deficiency	• Glutaric acidemia type 2	Metabolic disorders	ETFDH electron transfer flavoprotein dehydrogenase ETFA electron transfer flavoprotein subunit alpha FLAD1 flavin adenine dinucleotide synthetase 1 ETFB electron transfer flavoprotein subunit beta MADD MAP kinase activating death domain	Reports Updated as of Mar 09, 2023	PubMed
Infantile GM1 gangliosidosis	• GM1 gangliosidosis	Metabolic disorders/Lysosomal storage disorders	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
Goldenhar syndrome		Bone disorders	SF3B2 splicing factor 3b subunit 2 ZYG11B zyg-11 family member B, cell cycle regulator FOXI3 forkhead box I3	Reports Updated as of Mar 09, 2023	PubMed
Hurler syndrome	• Mucopolysaccharidosis type ih • Gargoylism, hurler syndrome	Metabolic disorders/Lysosomal storage disorders	IDUA alpha-L-iduronidase PITX1 paired like homeodomain 1	Reports Updated as of May 24, 2023	PubMed
Hyaline fibromatosis syndrome		Bone disorders	ANTXR2 ANTXR cell adhesion molecule 2	Reports Updated as of May 24, 2023	PubMed
Mucolipidosis type II	• I-Cell disease • I cell disease	Metabolic disorders/Lysosomal storage disorders	GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Reports Updated as of May 24, 2023	PubMed
Johanson-Blizzard syndrome		Developmental / Multisystemic disorders	UBR1 ubiquitin protein ligase E3 component n-recognin 1	Reports Updated as of May 24, 2023	PubMed
Krabbe disease	• Globoid cell leukodystrophy	Metabolic disorders/Lysosomal storage disorders	PSAP prosaposin	Reports Updated as of May 24, 2023	PubMed
Laurence-Moon syndrome		Eye disorders	PNPLA6 patatin like phospholipase domain containing 6	Reports Updated as of May 24, 2023	PubMed
Leber congenital amaurosis		Eye disorders	LCA5 lebercilin LCA5 CEP290 centrosomal protein 290 SPATA7 spermatogenesis associated 7 RDH12 retinol dehydrogenase 12 RPGRIP1 RPGR interacting protein 1 AIPL1 aryl hydrocarbon receptor interacting protein like 1 CRB1 crumbs cell polarity complex component 1 CRX cone-rod homeobox GUCY2D guanylate cyclase 2D, retinal RPE65 retinoid isomerohydrolase RPE65 RD3 RD3 regulator of GUCY2D IMPDH1 inosine monophosphate dehydrogenase 1 TULP1 TUB like protein 1 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 GDF6 growth differentiation factor 6 RIMS1 regulating synaptic membrane exocytosis 1 NPHP1 nephrocystin 1 LRAT lecithin retinol acyltransferase PDE6A phosphodiesterase 6A AHI1 Abelson helper integration site 1 RP2 RP2 activator of ARL3 GTPase IQCB1 IQ motif containing B1 TUBB4B tubulin beta 4B class IVb USP45 ubiquitin specific peptidase 45 PROM1 prominin 1 INPP5E inositol polyphosphate-5-phosphatase E CFAP410 cilia and flagella associated protein 410 ALMS1 ALMS1 centrosome and basal body associated protein RPGRIP1L RPGRIP1 like	Reports Updated as of May 24, 2023	PubMed
Warburg micro syndrome	• Micro syndrome	Neurodevelopmental disorders	RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 RAB18 RAB18, member RAS oncogene family RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 TBC1D20 TBC1 domain family member 20	Reports Updated as of Sep 05, 2023	PubMed
Peroxisome biogenesis disorder	• Neonatal adrenoleukodystrophy	Neurodegenerative disorders	PEX26 peroxisomal biogenesis factor 26 PEX16 peroxisomal biogenesis factor 16 PEX3 peroxisomal biogenesis factor 3 PEX10 peroxisomal biogenesis factor 10 PEX1 peroxisomal biogenesis factor 1 PEX14 peroxisomal biogenesis factor 14 PEX13 peroxisomal biogenesis factor 13 PEX12 peroxisomal biogenesis factor 12 PEX7 peroxisomal biogenesis factor 7 PEX6 peroxisomal biogenesis factor 6 PEX5 peroxisomal biogenesis factor 5 PEX2 peroxisomal biogenesis factor 2 PEX19 peroxisomal biogenesis factor 19 PEX11B peroxisomal biogenesis factor 11 beta	Reports Updated as of Sep 05, 2023	PubMed
Hypertrophic osteoarthropathy	• Pachydermoperiostosis	Bone disorders	HPGD 15-hydroxyprostaglandin dehydrogenase SLCO2A1 solute carrier organic anion transporter family member 2A1	Reports Updated as of Sep 05, 2023	PubMed
Persistent mullerian duct syndrome	• Persistent Müllerian duct syndrome • PMDS • Persistent Müllerian derivatives	Endocrine disorders	AMH anti-Mullerian hormone AMHR2 anti-Mullerian hormone receptor type 2	Reports Updated as of Sep 05, 2023	PubMed
Pontocerebellar hypoplasia type 1		Neuromuscular disorders	VRK1 VRK serine/threonine kinase 1 EXOSC3 exosome component 3 CLP1 cleavage factor polyribonucleotide kinase subunit 1 CHMP1A charged multivesicular body protein 1A	Reports Updated as of Sep 05, 2023	PubMed
Progressive Pseudorheumatoid Dysplasia		Bone disorders	CCN6 cellular communication network factor 6	Reports Updated as of Sep 05, 2023	PubMed
Rhizomelic chondrodysplasia punctata		Developmental / Multisystemic disorders	AGPS alkylglycerone phosphate synthase GNPAT glyceronephosphate O-acyltransferase PEX7 peroxisomal biogenesis factor 7 PEX5 peroxisomal biogenesis factor 5	Reports Updated as of Sep 05, 2023	PubMed
Severe combined immunodeficiency due to DCLRE1C deficiency	• SCID due to ARTEMIS deficiency	Immune disorders	DCLRE1C DNA cross-link repair 1C LIG4 DNA ligase 4	Reports Updated as of Sep 05, 2023	PubMed
Sialidosis type 2	• Sialidase deficiency • Infantile dysmorphic sialidosis	Metabolic disorders/Lysosomal storage disorders	NEU1 neuraminidase 1	Reports Updated as of Sep 05, 2023	PubMed
Spondylocostal dysostosis	• Spondylothoracic dysostosis	Bone disorders	MESP2 mesoderm posterior bHLH transcription factor 2 DLL3 delta like canonical Notch ligand 3 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase HES7 hes family bHLH transcription factor 7 TBX6 T-box transcription factor 6 RIPPLY2 ripply transcriptional repressor 2	Reports Updated as of Sep 05, 2023	PubMed
Wilson disease		Metabolic disorders	ATP7B ATPase copper transporting beta	Reports Updated as of Sep 05, 2023	PubMed
Winchester syndrome		Bone disorders	MMP14 matrix metallopeptidase 14	Reports Updated as of Sep 05, 2023	PubMed
Wolfram syndrome		Neurodegenerative disorders	CISD2 CDGSH iron sulfur domain 2 WFS1 wolframin ER transmembrane glycoprotein	Reports Updated as of Sep 05, 2023	PubMed
Bardet-Biedl syndrome		Eye disorders	WDPCP WD repeat containing planar cell polarity effector SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 BBS12 Bardet-Biedl syndrome 12 BBS10 Bardet-Biedl syndrome 10 CEP290 centrosomal protein 290 TMEM67 transmembrane protein 67 MKS1 MKS transition zone complex subunit 1 ARL6 ADP ribosylation factor like GTPase 6 TTC8 tetratricopeptide repeat domain 8 BBS9 Bardet-Biedl syndrome 9 BBS7 Bardet-Biedl syndrome 7 BBS2 Bardet-Biedl syndrome 2 MKKS MKKS centrosomal shuttling protein BBS5 Bardet-Biedl syndrome 5 TRIM32 tripartite motif containing 32 BBS4 Bardet-Biedl syndrome 4 BBS1 Bardet-Biedl syndrome 1 CFAP418 cilia and flagella associated protein 418 LZTFL1 leucine zipper transcription factor like 1 BBIP1 BBSome interacting protein 1 IFT27 intraflagellar transport 27 IFT172 intraflagellar transport 172 IFT74 intraflagellar transport 74 TRAPPC3 trafficking protein particle complex subunit 3 CEP19 centrosomal protein 19 ALMS1 ALMS1 centrosome and basal body associated protein RPGRIP1L RPGRIP1 like TSPOAP1 TSPO associated protein 1 COMT catechol-O-methyltransferase	Reports Updated as of Sep 05, 2023	PubMed
Friedreich ataxia		Neurodegenerative disorders	FXN frataxin	Reports Updated as of Sep 05, 2023	PubMed
Deficiency of galactokinase	• Galactokinase deficiency • GALK deficiency • GALK-D	Metabolic disorders	GALK1 galactokinase 1	Reports Updated as of Sep 05, 2023	PubMed
Galactose epimerase deficiency	• UDP-galactose-4-epimerase deficiency • Uridine diphosphate galactose 4-epimerase deficiency • GALE deficiency	Metabolic disorders	GALE UDP-galactose-4-epimerase	Reports Updated as of Sep 05, 2023	PubMed
Galactosemia	• Galactose-1-phosphate uridyl transferase deficiency	Metabolic disorders	GALT galactose-1-phosphate uridylyltransferase GALM galactose mutarotase	Reports Updated as of Sep 05, 2023	PubMed
Mucopolysaccharidosis, MPS-IV-A	• GALNS deficiency	Metabolic disorders/Lysosomal storage disorders	GALNS galactosamine (N-acetyl)-6-sulfatase	Reports Updated as of Sep 05, 2023	PubMed
Mucopolysaccharidosis type 6		Metabolic disorders/Lysosomal storage disorders	ARSB arylsulfatase B GUSB glucuronidase beta	Reports Updated as of Sep 05, 2023	PubMed
Hb SS disease	• Sickle cell anemia	Blood disorders	HBB hemoglobin subunit beta	Reports Updated as of Nov 02, 2023	PubMed
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	• Tetrahydrobiopterin deficiency • Hyperphenylalaninemia • Dihydropteridine reductase deficiency	Metabolic disorders	GCH1 GTP cyclohydrolase 1	Reports Updated as of Nov 02, 2023	PubMed
Wolman disease	• Lysosomal acid lipase deficiency • Acid lipase disease • Wolman disease with hypolipoproteinemia and acanthocytosis • LAL deficiency	Metabolic disorders	LIPA lipase A, lysosomal acid type	Reports Updated as of Nov 02, 2023	PubMed
Nephronophthisis		Nephrological disorders	XPNPEP3 X-prolyl aminopeptidase 3 TMEM67 transmembrane protein 67 NEK8 NIMA related kinase 8 NPHP3 nephrocystin 3 NPHP4 nephrocystin 4 NPHP1 nephrocystin 1 WDR19 WD repeat domain 19 TTC21B tetratricopeptide repeat domain 21B CEP164 centrosomal protein 164 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 GLIS2 GLIS family zinc finger 2 CEP83 centrosomal protein 83 DCDC2 doublecortin domain containing 2 RPGRIP1L RPGRIP1 like IQCB1 IQ motif containing B1 INVS inversin MAPKBP1 mitogen-activated protein kinase binding protein 1 RBM48 RNA binding motif protein 48 INCENP inner centromere protein FAM186B family with sequence similarity 186 member B PIAS1 protein inhibitor of activated STAT 1 CEP290 centrosomal protein 290 ZNF423 zinc finger protein 423 AHI1 Abelson helper integration site 1 RMND1 required for meiotic nuclear division 1 homolog MKKS MKKS centrosomal shuttling protein SLC41A1 solute carrier family 41 member 1 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9	Reports Updated as of Nov 02, 2023	PubMed
xeroderma pigmentosum		Skin disorders	XPC XPC complex subunit, DNA damage recognition and repair factor XPA XPA, DNA damage recognition and repair factor POLH DNA polymerase eta DDB2 damage specific DNA binding protein 2 ERCC5 ERCC excision repair 5, endonuclease ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit	Reports Updated as of Nov 02, 2023	PubMed
Alpha-1-antitrypsin deficiency		Metabolic disorders	SERPINA1 serpin family A member 1	Reports Updated as of Nov 02, 2023	PubMed
alpha Thalassemia	• Alpha-thalassemia • A-Thalassemia	Blood disorders	ATRX ATRX chromatin remodeler HBA2 hemoglobin subunit alpha 2 HBA1 hemoglobin subunit alpha 1	Reports Updated as of Nov 10, 2023	PubMed
Acrocallosal syndrome	• Hallux duplication	Bone disorders	KIF7 kinesin family member 7	Reports Updated as of Nov 10, 2023	PubMed
Alopecia universalis congenita	• Universal alopecia • Alopecia areata	Skin disorders	HR HR lysine demethylase and nuclear receptor corepressor	Reports Updated as of Nov 30, 2023	PubMed
Arginase deficiency	• Argininemia • Hyperargininemia	Metabolic disorders	ARG1 arginase 1	Reports Updated as of Nov 30, 2023	PubMed
Acute fatty liver of pregnancy	• LCHAD deficiency • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency • AFLP	Metabolic disorders	HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Reports Updated as of Nov 30, 2023	PubMed
Metachromatic leukodystrophy	• Arylsulfatase A deficiency • MLD	Metabolic disorders/Lysosomal storage disorders	ARSA arylsulfatase A PSAP prosaposin ARSB arylsulfatase B	Reports Updated as of Nov 30, 2023	PubMed
Plasminogen deficiency	• Hypoplasminogenemia	Blood disorders	PLG plasminogen	Reports Updated as of Nov 30, 2023	PubMed
Congenital afibrinogenemia	• Congenital fibrinogen deficiency	Blood disorders	FGG fibrinogen gamma chain FGB fibrinogen beta chain FGA fibrinogen alpha chain	Reports Updated as of Nov 30, 2023	PubMed
Sandhoff disease	• Hexosaminidases A and B deficiency	Metabolic disorders/Lysosomal storage disorders	HEXB hexosaminidase subunit beta	Reports Updated as of Nov 30, 2023	PubMed
Alpha-2-plasmin inhibitor deficiency	• Congenital alpha2-antiplasmin deficiency • Alpha-2 Antiplasmin deficiency	Blood disorders	SERPINF2 serpin family F member 2	Reports Updated as of Nov 30, 2023	PubMed
Vitamin K-dependent clotting factors, combined deficiency of, type 1	• Vitamin K-dependent coagulation defect • Congenital deficiency of vitamin K dependent clotting factors	Blood disorders	GGCX gamma-glutamyl carboxylase	Reports Updated as of Nov 30, 2023	PubMed
Alstrom syndrome	• Alström Syndrome • Alstrom's syndrome	Multisystemic disorders	ALMS1 ALMS1 centrosome and basal body associated protein	Reports Updated as of Nov 30, 2023	PubMed
Behcet disease	• Behçet disease • Behcet syndrome • Behcet's disease • Behcet's syndrome	Skin disorders	NOD2 nucleotide binding oligomerization domain containing 2 TNFRSF1A TNF receptor superfamily member 1A PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ADA2 adenosine deaminase 2 MEFV MEFV innate immunity regulator, pyrin	Reports Updated as of Nov 30, 2023	PubMed
Pili torti-deafness syndrome	• Björnstad syndrome • Bjornstad syndrome	Ear disorders/Hair disorders	BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	Reports Updated as of Nov 30, 2023	PubMed
Bloom syndrome	• BSyn • Bloom-Torre-Machacek syndrome	Skin disorders	BLM BLM RecQ like helicase	Reports Updated as of Nov 30, 2023	PubMed
CEDNIK syndrome	• Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	Skin disorders	SNAP29 synaptosome associated protein 29	Reports Updated as of Nov 30, 2023	PubMed
Cenani-Lenz syndactyly syndrome	• Cenani-Lenz syndrome • Cenani syndactyly • Syndactyly type 7	Bone disorders	LRP4 LDL receptor related protein 4	Reports Updated as of Nov 30, 2023	PubMed
Classic homocystinuria	• CBS deficiency • Cystathionine beta-synthase deficiency • Classical homocystinuria	Metabolic disorders	CBS cystathionine beta-synthase PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin	Reports Updated as of Nov 30, 2023	PubMed
Congenital primary aphakia	• Anterior segment dysgenesis 2	Eye disorders	FOXE3 forkhead box E3	Reports Updated as of Nov 30, 2023	PubMed
Filippi syndrome		Bone disorders	CKAP2L cytoskeleton associated protein 2 like	Reports Updated as of Dec 07, 2023	PubMed
LCAT deficiency	• Norum disease • Familial lecithin cholesterol acyltransferase deficiency • Fish-eye disease • Familial LCAT deficiency	Metabolic disorders	LCAT lecithin-cholesterol acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
Fraser syndrome	• Cryptophthalmos syndrome • Fraser-cryptophthalmos syndrome	Eye disorders	FREM2 FRAS1 related extracellular matrix 2 FRAS1 Fraser extracellular matrix complex subunit 1 GRIP1 glutamate receptor interacting protein 1	Reports Updated as of Dec 07, 2023	PubMed
Fucosidosis		Metabolic disorders/Lysosomal storage disorders	FUCA1 alpha-L-fucosidase 1 DCX doublecortin	Reports Updated as of Dec 07, 2023	PubMed
GAPO syndrome	• Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome	Developmental / Multisystemic disorders	ANTXR1 ANTXR cell adhesion molecule 1	Reports Updated as of Dec 07, 2023	PubMed
Ghosal hematodiaphyseal dysplasia	• GHDD	Bone disorders	TBXAS1 thromboxane A synthase 1	Reports Updated as of Dec 07, 2023	PubMed
Ellis-van Creveld syndrome	• Mesodermic dysplasia • Chondroectodermal dysplasia • Ellis Van Creveld syndrome	Bone disorders	EVC2 EvC ciliary complex subunit 2 EVC EvC ciliary complex subunit 1	Reports Updated as of Dec 07, 2023	PubMed
Epidermodysplasia verruciformis	• Lewandowsky-Lutz syndrome	Skin disorders	TMC8 transmembrane channel like 8 TMC6 transmembrane channel like 6 CIB1 calcium and integrin binding 1	Reports Updated as of Dec 07, 2023	PubMed
Ethylmalonic encephalopathy	• EPEMA syndrome	Metabolic disorders	ETHE1 ETHE1 persulfide dioxygenase	Reports Updated as of Dec 07, 2023	PubMed
Glanzmann thrombasthenia	• Thrombasthenia	Blood disorders	ITGA2B integrin subunit alpha 2b ITGB3 integrin subunit beta 3	Reports Updated as of Dec 07, 2023	PubMed
Gray platelet syndrome	• Alpha storage pool deficiency	Blood disorders	NBEAL2 neurobeachin like 2	Reports Updated as of Dec 07, 2023	PubMed
Ornithine aminotransferase deficiency	• Gyrate atrophy of choroid and retina • Hyperornithinemia • Girate atrophy	Metabolic disorders	OAT ornithine aminotransferase	Reports Updated as of Dec 07, 2023	PubMed
H syndrome	• Histiocytosis-lymphadenopathy plus syndrome • Asrar Facharzt Haque syndrome • Faisalabad histiocytosis	Skin disorders	SLC29A3 solute carrier family 29 member 3	Reports Updated as of Dec 07, 2023	PubMed
Haim-Munk syndrome	• Keratosis palmoplantaris with periodontopathia and onychogryposis • Papillon-Lefèvre syndrome • Cochin Jewish disorder	Skin disorders	CTSC cathepsin C	Reports Updated as of Dec 07, 2023	PubMed
Autosomal recessive congenital ichthyosis 4B	• Harlequin ichthyosis • Ichthyosis congenita • Harlequin type	Skin disorders	ABCA12 ATP binding cassette subfamily A member 12	Reports Updated as of Dec 07, 2023	PubMed
Congenital defect of folate absorption	• Hereditary folate malabsorption	Metabolic disorders	SLC46A1 solute carrier family 46 member 1	Reports Updated as of Dec 07, 2023	PubMed
Hereditary fructosuria	• Hereditary fructose intolerance • Hereditary fructosemia • Hereditary fructose-1-phosphate aldolase deficiency	Metabolic disorders	ALDOB aldolase, fructose-bisphosphate B	Reports Updated as of Dec 07, 2023	PubMed
Hereditary pulmonary alveolar proteinosis	• Pulmonary surfactant metabolism dysfunction • Congenital PAP • Congenital pulmonary alveolar proteinosis	Respiratory disorders	SFTPB surfactant protein B SFTPC surfactant protein C ABCA3 ATP binding cassette subfamily A member 3	Reports Updated as of Dec 07, 2023	PubMed
Congenital secretory diarrhea, chloride type	• Congenital chloride diarrhea • Familial Chloride Diarrhea	Gastrointestinal disorders	SLC26A3 solute carrier family 26 member 3	Reports Updated as of Dec 07, 2023	PubMed
Cutaneous porphyria	• Congenital erythropoietic porphyria • Günther disease	Skin disorders	UROS uroporphyrinogen III synthase	Reports Updated as of Dec 07, 2023	PubMed
Congenital disorder of glycosylation	• Carbohydrate-deficient glycoprotein syndrome • Carbohydrate deficient glycoprotein syndrome • CDG • Congenital disorders of glycosylation	Metabolic disorders	ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit PGM1 phosphoglucomutase 1 ALG3 ALG3 alpha-1,3- mannosyltransferase TUSC3 tumor suppressor candidate 3 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ALG8 ALG8 alpha-1,3-glucosyltransferase ALG9 ALG9 alpha-1,2-mannosyltransferase COG6 component of oligomeric golgi complex 6 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase COG7 component of oligomeric golgi complex 7 COG8 component of oligomeric golgi complex 8 MPDU1 mannose-P-dolichol utilization defect 1 COG2 component of oligomeric golgi complex 2 DHDDS dehydrodolichyl diphosphate synthase subunit FUT8 fucosyltransferase 8 RPN2 ribophorin II FCSK fucose kinase MAGT1 magnesium transporter 1 SRD5A3 steroid 5 alpha-reductase 3 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ATP6AP2 ATPase H+ transporting accessory protein 2 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 SSR3 signal sequence receptor subunit 3 SLC37A4 solute carrier family 37 member 4 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A SLC35A2 solute carrier family 35 member A2 CAMLG calcium modulating ligand COG3 component of oligomeric golgi complex 3 CACNA1D calcium voltage-gated channel subunit alpha1 D	Reports Updated as of Dec 29, 2023	PubMed
Dicarboxylic aminoaciduria	• Glutamate-aspartate transport defect	Metabolic disorders	SLC1A1 solute carrier family 1 member 1	Reports Updated as of Dec 29, 2023	PubMed
Dubowitz syndrome	• Dwarfism-eczema-peculiar facies syndrome • Dubowitz's syndrome	Skin disorders	NSUN2 NOP2/Sun RNA methyltransferase 2	Reports Updated as of Dec 29, 2023	PubMed
EAST syndrome	• SeSAME syndrome • Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance Syndrome	Neurodevelopmental disorders	KCNJ10 potassium inwardly rectifying channel subfamily J member 10	Reports Updated as of Dec 29, 2023	PubMed
Amelogenesis imperfecta type 1G	• Enamel renal syndrome • Enamel-renal syndrome • Enamel-Renal-Gingival syndeome • Generalized enamel hypoplasia and renal dysfunction	Oral disorders	FAM20A FAM20A golgi associated secretory pathway pseudokinase	Reports Updated as of Dec 29, 2023	PubMed
Tyrosinemia type 1	• FAH deficiency • Fumarylacetoacetate hydrolase deficiency	Metabolic disorders	FAH fumarylacetoacetate hydrolase	Reports Updated as of Dec 29, 2023	PubMed
Glucocorticoid deficiency with achalasia	• Triple A syndrome (Allgrove syndrome) • Achalasia-Addisonianism-Alacrima Syndrome • AAA syndrome	Endocrine disorders	AAAS aladin WD repeat nucleoporin	Reports Updated as of Dec 29, 2023	PubMed
Trichothiodystrophy		Skin disorders	MPLKIP M-phase specific PLK1 interacting protein GTF2H5 general transcription factor IIH subunit 5 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit RNF113A ring finger protein 113A GTF2E2 general transcription factor IIE subunit 2 TARS1 threonyl-tRNA synthetase 1 AARS1 alanyl-tRNA synthetase 1	Reports Updated as of Dec 29, 2023	PubMed
Congenital amegakaryocytic thrombocytopenia		Blood disorders	MPL MPL proto-oncogene, thrombopoietin receptor	Reports Updated as of Dec 29, 2023	PubMed
Tangier disease	• Analphalipo-proteinemia • Cholesterol thesaurismosi • Alpha high density lipoprotein deficiency disease • Tangier's disease	Metabolic disorders	ABCA1 ATP binding cassette subfamily A member 1 APOA1 apolipoprotein A1	Reports Updated as of Dec 29, 2023	PubMed
Succinyl-CoA acetoacetate transferase deficiency	• SCOT Deficiency • OXCT1 deficiency • Succinyl-CoA:3-oxoacid CoA transferase deficiency	Metabolic disorders	OXCT1 3-oxoacid CoA-transferase 1	Reports Updated as of Dec 29, 2023	PubMed
Succinate-semialdehyde dehydrogenase deficiency	• 4-hydroxybutyric aciduria • Gamma-hydroxybutyricaciduria • Succinic semialdehyde dehydrogenase deficiency	Metabolic disorders	ALDH5A1 aldehyde dehydrogenase 5 family member A1	Reports Updated as of Dec 29, 2023	PubMed
Spondylocarpotarsal synostosis syndrome	• Synspondylism • Spondylocarpotarsal synostosis	Bone disorders	FLNB filamin B MYH3 myosin heavy chain 3	Reports Updated as of Dec 29, 2023	PubMed
Sneddon syndrome	• Cerebro-vascular lesions and livedo reticularis • Idiopathic livedo reticularis with systemic involvement	Skin disorders	ADA2 adenosine deaminase 2	Reports Updated as of Dec 29, 2023	PubMed
Smith-Lemli-Opitz syndrome	• 7-Dehydrocholesterol reductase deficiency • Lethal Acrodysgenital syndrome • RSH syndrome	Metabolic disorders	DHCR7 7-dehydrocholesterol reductase	Reports Updated as of Dec 29, 2023	PubMed
Smith-McCort dysplasia	• Smith-McCort dwarfism	Bone disorders	DYM dymeclin RAB33B RAB33B, member RAS oncogene family	Reports Updated as of Dec 29, 2023	PubMed
Sitosterolemia	• Phytosterolemia	Metabolic disorders	ABCG8 ATP binding cassette subfamily G member 8 ABCG5 ATP binding cassette subfamily G member 5	Reports Updated as of Dec 29, 2023	PubMed
Salla disease	• Free sialic acid storage disease • Infantile sialic acid storage disorder (ISSD)	Metabolic disorders	SLC17A5 solute carrier family 17 member 5	Reports Updated as of Dec 29, 2023	PubMed
Severe congenital nemaline myopathy		Neuromuscular disorders	KLHL40 kelch like family member 40	Reports Updated as of Dec 29, 2023	PubMed
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	• Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome • Sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO)	Neuromuscular disorders	POLG DNA polymerase gamma, catalytic subunit TWNK twinkle mtDNA helicase	Reports Updated as of Dec 29, 2023	PubMed
Senior-Loken syndrome	• Nephronophthisis with retinal dystrophy • Renal-retinal syndrome	Eye disorders	SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 CEP290 centrosomal protein 290 IQCB1 IQ motif containing B1 NPHP4 nephrocystin 4 WDR19 WD repeat domain 19 TRAF3IP1 TRAF3 interacting protein 1 NPHP1 nephrocystin 1	Reports Updated as of Dec 29, 2023	PubMed
Sclerosteosis	• Cortical hyperostosis-syndactyly syndrome	Bone disorders	SOST sclerostin LRP4 LDL receptor related protein 4	Reports Updated as of Jan 04, 2024	PubMed
Schimke immuno-osseous dysplasia	• Schimke immunoosseous dysplasia • Schimke syndrome • Spondyloepiphyseal dysplasia nephrotic syndrome	Bone disorders	SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	Reports Updated as of Jan 04, 2024	PubMed
Ramon syndrome	• Gingival fibromatosis combined with cherubism • Cherubism-gingival fibromatosis-intellectual disability syndrome	Oral disorders	ELMO2 engulfment and cell motility 2	Reports Updated as of Jan 04, 2024	PubMed
Pyridoxine-dependent epilepsy	• Vitamin B6-dependent seizures • Antiquitin deficiency • Pyridoxine dependency	Metabolic disorders	ALDH7A1 aldehyde dehydrogenase 7 family member A1	Reports Updated as of Jan 04, 2024	PubMed
Pyridoxal phosphate-responsive seizures	• PNPO deficiency • Pyridoxal 5-phosphate-dependent epilepsy • Pyridoxamine 5-prime-phosphate oxidase deficiency	Metabolic disorders	PNPO pyridoxamine 5'-phosphate oxidase	Reports Updated as of Jan 04, 2024	PubMed
Pyle metaphyseal dysplasia	• Pyle disease • Metaphyseal dysostosis • Pyle's disease	Bone disorders	SFRP4 secreted frizzled related protein 4	Reports Updated as of Jan 04, 2024	PubMed
Pyknodysostosis	• Pycnodysostosis	Bone disorders	CTSK cathepsin K	Reports Updated as of Jan 04, 2024	PubMed
Purine-nucleoside phosphorylase deficiency	• PNP deficiency • PNPase deficiency • Purine nucleoside phosphorylase deficiency	Metabolic disorders	PNP purine nucleoside phosphorylase	Reports Updated as of Jan 04, 2024	PubMed
Pulmonary venoocclusive disease	• Pulmonary veno-occlusive disease	Respiratory disorders	BMPR2 bone morphogenetic protein receptor type 2 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4	Reports Updated as of Jan 04, 2024	PubMed
Pulmonary alveolar microlithiasis		Respiratory disorders	SLC34A2 solute carrier family 34 member 2	Reports Updated as of Jan 04, 2024	PubMed
Pseudoxanthoma elasticum	• Gronblad Strandberg syndrome • Autosomal recessive inherited pseudoxanthoma elasticum	Skin disorders	ABCC6 ATP binding cassette subfamily C member 6	Reports Updated as of Jan 04, 2024	PubMed
Proximal myopathy with extrapyramidal signs	• Myopathy with extrapyramidal signs	Neuromuscular disorders	MICU1 mitochondrial calcium uptake 1	Reports Updated as of Jan 04, 2024	PubMed
Prune belly syndrome	• Abdominal muscle deficiency syndrome • Eagle-Barret syndrome • Prune belly	Nephrological disorders	CHRM3 cholinergic receptor muscarinic 3 MYOCD myocardin FLNA filamin A	Reports Updated as of Jan 04, 2024	PubMed
Propionic acidemia	• Hyperglycinemia with ketoacidosis and leukopenia • Ketotic hyperglycinemia • Propionic aciduria • Propionyl-CoA carboxylase deficiency	Metabolic disorders	PCCB propionyl-CoA carboxylase subunit beta PCCA propionyl-CoA carboxylase subunit alpha	Reports Updated as of Jan 04, 2024	PubMed
Methylmalonic acidemia	• Methylmalonic aciduria • Isolated methylmalonic acidemia	Metabolic disorders	MCEE methylmalonyl-CoA epimerase ABCD4 ATP binding cassette subfamily D member 4 HCFC1 host cell factor C1 MMUT methylmalonyl-CoA mutase CD320 CD320 molecule MMAB metabolism of cobalamin associated B THAP11 THAP domain containing 11 MMAA metabolism of cobalamin associated A ACSF3 acyl-CoA synthetase family member 3	Reports Updated as of Jan 04, 2024	PubMed
Prolidase deficiency	• Hyperimidodipeptiduria	Metabolic disorders	PEPD peptidase D	Reports Updated as of Jan 04, 2024	PubMed
Miller syndrome	• Postaxial acrofacial dysostosis • Acrofacial dysostosis,POADS • Postaxial acrodysostosis	Bone disorders	DHODH dihydroorotate dehydrogenase (quinone)	Reports Updated as of Jan 04, 2024	PubMed
Poikiloderma with neutropenia	• Poikiloderma with neutropenia Clericuzio type	Skin disorders	USB1 U6 snRNA biogenesis phosphodiesterase 1	Reports Updated as of Jan 04, 2024	PubMed
Pierson syndrome	• Microcoria-congenital nephrosis syndrome	Nephrological disorders	LAMB2 laminin subunit beta 2	Reports Updated as of Jan 04, 2024	PubMed
Perrault syndrome 1	• XX gonodal dysgenesis-deafness syndrome • Ovarian dysgenesis with sensorineural deafness • XX gonodal dysgenesis-hearing loss syndrome	Endocrine disorders	HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 PRORP protein only RNase P catalytic subunit FBN1 fibrillin 1 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit	Reports Updated as of Jan 04, 2024	PubMed
Otospondylomegaepiphyseal dysplasia	• Spondylo-megaepiphyseal-metaphyseal dysplasia • OSMED Syndrome	Bone disorders	COL11A2 collagen type XI alpha 2 chain COL2A1 collagen type II alpha 1 chain	Reports Updated as of Jan 04, 2024	PubMed
Opsismodysplasia		Bone disorders	INPPL1 inositol polyphosphate phosphatase like 1	Reports Updated as of Jan 04, 2024	PubMed
Obesity due to congenital leptin deficiency	• Leptin deficiency or dysfunction • Leptin deficiency	Endocrine disorders	LEP leptin	Reports Updated as of Jan 04, 2024	PubMed
Neutral lipid storage myopathy	• Neutral lipid storage disease without ichthyosis	Metabolic disorders/Lysosomal storage disorders	PNPLA2 patatin like phospholipase domain containing 2	Reports Updated as of Jan 04, 2024	PubMed
Acroerythrokeratoderma	• Mal de Meleda • Meleda Disease • Keratosis palmoplantaris transgradiens of Siemens	Skin disorders	SLURP1 secreted LY6/PLAUR domain containing 1	Reports Updated as of Jan 04, 2024	PubMed
Bamforth-Lazarus syndrome	• Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate	Endocrine disorders	FOXE1 forkhead box E1	Reports Updated as of Feb 01, 2024	PubMed
Naxos disease	• Keratosis palmoplantaris with arrythmogenic cardiomyopathy • Mal de Naxos • Arrhythmogenic Right Ventricular Dysplasia	Cardiovascular disorders	JUP junction plakoglobin	Reports Updated as of Feb 01, 2024	PubMed
Citrullinemia type I	• Argininosuccinate synthetase deficiency • Citrullinemia 1 • Classic citrullinemia • ASS deficiency	Metabolic disorders	SLC25A13 solute carrier family 25 member 13 ASS1 argininosuccinate synthase 1	Reports Updated as of Feb 01, 2024	PubMed
Multiple gastrointestinal atresias	• Multiple intestinal atresia • Familial intestinal polyatresia syndrome	Gastrointestinal disorders	TTC7A tetratricopeptide repeat domain 7A	Reports Updated as of Feb 01, 2024	PubMed
Multiple sulfatase deficiency	• Juvenile sulfatidosis, Austin type • Mucosulfatidosis • Multiple sulfatase deficiency disease • Juvenile sulfatidosis	Metabolic disorders/Lysosomal storage disorders	SUMF1 sulfatase modifying factor 1 SUMF2 sulfatase modifying factor 2	Reports Updated as of Feb 01, 2024	PubMed
Muscle eye brain disease	• Santavuori congenital muscular dystrophy • Muscle-eye-brain disease	Neuromuscular disorders	POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Reports Updated as of Feb 01, 2024	PubMed
Ehlers-Danlos syndrome, musculocontractural type	• Musculocontractural Ehlers-Danlos syndrome • Adducted thumb-clubfoot syndrome • Dündar syndrome	Bone disorders	CHST14 carbohydrate sulfotransferase 14 DSE dermatan sulfate epimerase	Reports Updated as of Feb 01, 2024	PubMed
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	• Nasu-Hakola disease • PLOSL	Bone disorders	TREM2 triggering receptor expressed on myeloid cells 2 TYROBP transmembrane immune signaling adaptor TYROBP	Reports Updated as of Feb 01, 2024	PubMed
Mulibrey nanism syndrome	• Muscle-liver-brain-eye nanism • Perheentupa syndrome • Mulibrey Nanism • Pericardial constriction and growth failure	Bone disorders	TRIM37 tripartite motif containing 37	Reports Updated as of Feb 01, 2024	PubMed
Multicentric osteolysis nodulosis arthropathy	• Nodulosis arthropathy osteolysis syndrome • NAO syndrome • NOA syndrome • Torg syndrome • Torg-Winchester syndrome	Bone disorders	MMP2 matrix metallopeptidase 2 LPCAT2 lysophosphatidylcholine acyltransferase 2	Reports Updated as of Feb 01, 2024	PubMed
Mosaic variegated aneuploidy syndrome 2	• Mosaic variegated aneuploidy syndrome	Multisystemic disorders	CEP57 centrosomal protein 57	Reports Updated as of Feb 01, 2024	PubMed
Majeed syndrome	• Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis • Dyserythropoietic anemia, and neutrophilic dermatosis • CDA and CRMO	Bone disorders	LPIN2 lipin 2	Reports Updated as of Feb 01, 2024	PubMed
Mesoaxial synostotic syndactyly with phalangeal reduction	• Syndactyly type 9 • Syndactyly Malik-Percin type	Bone disorders	BHLHA9 basic helix-loop-helix family member a9	Reports Updated as of Feb 01, 2024	PubMed
Mevalonic aciduria	• Complete mevalonate kinase deficiency • Mevalonate kinase deficiency • Mevalonicaciduria	Metabolic disorders	MVK mevalonate kinase	Reports Updated as of Feb 01, 2024	PubMed
Miyoshi muscular dystrophy	• Miyoshi myopathy • Dysferlinopathy • Miyoshi distal myopathy	Neuromuscular disorders	ANO5 anoctamin 5 DYSF dysferlin	Reports Updated as of Feb 01, 2024	PubMed
Lysinuric protein intolerance	• Dibasicamino aciduria II • Hyperdibasic aminoaciduria • LPI	Metabolic disorders	SLC7A7 solute carrier family 7 member 7	Reports Updated as of Feb 01, 2024	PubMed
Macular corneal dystrophy	• Groenouw type II corneal dystrophy • Fehr corneal dystrophy • MCD • Macular dystrophy, corneal type 1	Eye disorders	CHST6 carbohydrate sulfotransferase 6	Reports Updated as of Feb 01, 2024	PubMed
Lipid proteinosis	• Lipoid Proteinosis • LipoproteinosisHyalinosis cutis et mucosae • Urbach-Wiethe disease	Metabolic disorders	ECM1 extracellular matrix protein 1	Reports Updated as of Feb 01, 2024	PubMed
Lathosterolosis	• Sterol C5-desaturase deficiency • SC5D deficiency	Metabolic disorders	SC5D sterol-C5-desaturase	Reports Updated as of Feb 01, 2024	PubMed
Langer mesomelic dysplasia syndrome	• Dyschondrosteosis, homozygous • Langer Mesomelic Dwarfism • Langer mesomelic dysplasia • Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type	Bone disorders	SHOX SHOX homeobox	Reports Updated as of Feb 01, 2024	PubMed
Lafora disease	• Myoclonic epilepsy of Lafora • EPM2A-Related Lafora Disease • Epilepsy progressive myoclonic 2 • Lafora body disorder • Progressive Myoclonus Epilepsy, Lafora Typ • EPM2 • PME type 2	Neurodegenerative disorders	EPM2A EPM2A glucan phosphatase, laforin NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1	Reports Updated as of Feb 01, 2024	PubMed
Knobloch syndrome	• Myopia retinal detachment encephalocele • Retinal detachment-occipital encephalocele syndrome • Knobloch-Layer syndrome	Eye disorders	COL18A1 collagen type XVIII alpha 1 chain PAK2 p21 (RAC1) activated kinase 2	Reports Updated as of Feb 01, 2024	PubMed
Hereditary acrodermatitis enteropathica	• Acrodermatitis enteropathica • Inherited zinc deficiency • Acrodermatitis enteropathica zinc deficiency type • Brandt syndrome • Danbolt-Cross syndrome	Metabolic disorders	SLC39A4 solute carrier family 39 member 4	Reports Updated as of Feb 01, 2024	PubMed
Acatalasia	• Acatalasemia • Catalase deficiency	Metabolic disorders	CAT catalase	Reports Updated as of Feb 01, 2024	PubMed
Abetalipoproteinaemia	• Abetalipoproteinemia • Abetalipoproteinemia neuropathy • Bassen Kornzweig syndrome • Betalipoprotein deficiency disease • Congenital betalipoprotein deficiency syndrome • Low-density beta lipoprotein deficiency • Microsomal-triglyceride transfer protein deficiency	Metabolic disorders	MTTP microsomal triglyceride transfer protein	Reports Updated as of Feb 01, 2024	PubMed
Adenylosuccinate lyase deficiency	• ADSL deficiency • Adenylosuccinase deficiency	Metabolic disorders	ADSL adenylosuccinate lyase	Reports Updated as of Feb 01, 2024	PubMed
Adenine phosphoribosyltransferase deficiency	• APRT deficiency • Dihydroxyadeninuria • 2,8-dihydroxyadenine urolithiasis	Metabolic disorders	APRT adenine phosphoribosyltransferase	Reports Updated as of Feb 01, 2024	PubMed
Adult polyglucosan body disease	• Polyglucosan body disease, adult form	Metabolic disorders	GBE1 1,4-alpha-glucan branching enzyme 1	Reports Updated as of Feb 01, 2024	PubMed
Amelocerebrohypohidrotic syndrome	• Kohlschütter-Tönz syndrome • Epilepsy-dementia-amelogenesis imperfecta syndrome • Epilepsy and yellow teeth	Neurodegenerative disorders	ROGDI rogdi atypical leucine zipper	Reports Updated as of Feb 01, 2024	PubMed
Apparent mineralocorticoid excess	• 11-beta-hydroxysteroid dehydrogenase deficiency type 2 • Apparent Mineralocorticoid Excess Syndrome • Cortisol 11-beta-ketoreductase deficiency • Ulick syndrome	Endocrine disorders	HSD11B2 hydroxysteroid 11-beta dehydrogenase 2	Reports Updated as of Feb 01, 2024	PubMed
Aromatase deficiency	• Pseudohermaphroditism, female, due to placental aromatase deficiency • Increased aromatase activity • Congenital estrogen deficiency	Endocrine disorders	CYP19A1 cytochrome P450 family 19 subfamily A member 1	Reports Updated as of Feb 01, 2024	PubMed
Leprechaunism syndrome	• Donohue syndrome • Leprechaunism	Endocrine disorders	INSR insulin receptor	Reports Updated as of Feb 01, 2024	PubMed
Karyomegalic interstitial nephritis	• Systemic karyomegaly • KIN	Nephrological disorders	FAN1 FANCD2 and FANCI associated nuclease 1	Reports Updated as of Feb 01, 2024	PubMed
Orthostatic hypotension 1	• Dopamine beta-hydroxylase deficiency • Noradrenaline deficiency • Norepinephrine deficiency • DBH deficiency • Orthostatic hypotension 1, due to DBH deficiency	Metabolic disorders	DBH dopamine beta-hydroxylase	Reports Updated as of Feb 20, 2024	PubMed
Pyruvate carboxylase deficiency	• Ataxia with lactic acidosis 2 • Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency • PC deficiency	Metabolic disorders	PC pyruvate carboxylase	Reports Updated as of Feb 20, 2024	PubMed
Hyperprolinemia type 2	• Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency • Deficiency of pyrroline-5-carboxylate reductase • Hyperprolinemia, Type II	Metabolic disorders	ALDH4A1 aldehyde dehydrogenase 4 family member A1	Reports Updated as of Feb 20, 2024	PubMed
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	• HMG-CoA synthase deficiency • HMGCS2 deficiency • 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency • HMG-CoA synthase-2 deficiency • Mitochondrial HMG-CoA synthase deficiency	Metabolic disorders	HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2	Reports Updated as of Feb 20, 2024	PubMed
Deficiency of acetyl-CoA acetyltransferase	• Beta-ketothiolase deficiency • 2-methyl-3-hydroxybutyricacidemia • 3-ketothiolase deficiency • 3-oxothiolase deficiency • Alpha-methylacetoaceticaciduria • Beta ketothiolase deficiency • Ketothiolase deficiency • Mitochondrial acetoacetyl-CoA Thiolase deficiency	Metabolic disorders	ACAT1 acetyl-CoA acetyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
Deficiency of guanidinoacetate methyltransferase	• Cerebral creatine deficiency syndrome 2 • Guanidinoacetate methyltransferase deficiency • GAMT deficiency	Metabolic disorders	GAMT guanidinoacetate N-methyltransferase	Reports Updated as of Feb 20, 2024	PubMed
Primary hyperoxaluria, type I	• Glycolic aciduria • Hepatic AGT deficiency • Primary hyperoxaluria type 1 • Oxalosis 1 • Peroxisomal alanine glyoxylate aminotransferase deficiency • Serine pyruvate aminotransferase deficiency	Metabolic disorders	GRHPR glyoxylate and hydroxypyruvate reductase AGXT alanine--glyoxylate aminotransferase	Reports Updated as of Feb 20, 2024	PubMed
Primary hyperoxaluria, type II	• D-glycerate dehydrogenase deficiency • L-glyceric aciduria • Glyceric aciduria • Oxalosis 2 • Primary hyperoxaluria type 2 • Glyoxylate reductase/hydroxypyruvate reductase deficiency	Metabolic disorders	GRHPR glyoxylate and hydroxypyruvate reductase	Reports Updated as of Feb 20, 2024	PubMed
Sulfite oxidase deficiency	• Sulfocysteinuria • ISOD • Isolated sulfite oxidase deficiency	Metabolic disorders	SUOX sulfite oxidase GPHN gephyrin MOCS2 molybdenum cofactor synthesis 2 MOCS1 molybdenum cofactor synthesis 1	Reports Updated as of Feb 20, 2024	PubMed
Non-ketotic hyperglycinemia	• Glycine encephalopathy • Nonketotic hyperglycinemia • AMT-Related Glycine Encephalopathy • GLDC-Related Glycine Encephalopathy	Metabolic disorders	AMT aminomethyltransferase GLDC glycine decarboxylase GCSH glycine cleavage system protein H PCDH19 protocadherin 19	Reports Updated as of Feb 20, 2024	PubMed
Dihydropyrimidinase deficiency	• Dihydropyrimidinuria • DPH deficiency • DPYS deficiency	Metabolic disorders	DPYS dihydropyrimidinase	Reports Updated as of Feb 20, 2024	PubMed
Deficiency of butyrylcholinesterase	• Pseudocholinesterase deficiency • Butyrylcholinesterase deficiency • Acholinesterasemia • Acylcholine acylhydrolase deficiency • BCHE deficiency • CHE1 deficiency	Metabolic disorders	BCHE butyrylcholinesterase	Reports Updated as of Feb 20, 2024	PubMed
Fumarase deficiency	• Fumaric aciduria • Fumarate hydratase deficiency	Metabolic disorders	FH fumarate hydratase	Reports Updated as of Feb 20, 2024	PubMed
Brown-Vialetto-van Laere syndrome 1	• Riboflavin transporter deficiency • Brown-Vialetto-van Laere syndrome • Pontobulbar palsy and neurosensory deafness	Neurodegenerative disorders	SLC52A3 solute carrier family 52 member 3	Reports Updated as of Feb 20, 2024	PubMed
Schwartz-Jampel syndrome	• Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities • Schwartz Jampel syndrome type 1 • Aberfeld syndrome • Burton skeletal dysplasia • Burton syndrome • Catel-Hempel syndrome • Dysostosis enchondralis metaepiphysaria, Catel-Hempel type • Myotonic chondrodystrophy • Myotonic myopathy, dwarfism, chondrodystrophy	Bone disorders	HSPG2 heparan sulfate proteoglycan 2	Reports Updated as of Feb 20, 2024	PubMed
Phytanic acid storage disease	• Refsum disease • Heredopathia atactica polyneuritiformis • Hypertrophic neuropathy of Refsum • PEX7-Related Refsum disease • PHYH-Related Refsum disease • Phytanic acid oxidase deficiency • Adult Refsum disease • HMSN 4 • Hereditary motor and sensory neuropathy type 4 • Heredopathia atactica polyneuritiformis • Phytanic-CoA hydroxylase deficiency	Metabolic disorders	PHYH phytanoyl-CoA 2-hydroxylase PEX7 peroxisomal biogenesis factor 7	Reports Updated as of Feb 20, 2024	PubMed
Autoimmune hemolytic anemia	• AHA • AIHA	Blood disorders	SOCS1 suppressor of cytokine signaling 1 TLR8 toll like receptor 8	Reports Updated as of Feb 20, 2024	PubMed
Arterial tortuosity syndrome	• ATS	Cardiovascular disorders	SLC2A10 solute carrier family 2 member 10	Reports Updated as of Feb 20, 2024	PubMed
Congenital diaphragmatic hernia	• CDH	Respiratory disorders	PAX3 paired box 3 FREM1 FRAS1 related extracellular matrix 1 FBN1 fibrillin 1 FREM2 FRAS1 related extracellular matrix 2 LZTR1 leucine zipper like post translational regulator 1 PLS3 plastin 3	Reports Updated as of Feb 20, 2024	PubMed
Carpenter syndrome	• Acrocephalopolysyndactyly type 2 • ACPS2 • RAB23-related Carpenter syndrome • Acrocephalopolysyndactyly Type II • Carpenter syndrome 1	Bone disorders	RAB23 RAB23, member RAS oncogene family MEGF8 multiple EGF like domains 8	Reports Updated as of Feb 20, 2024	PubMed
Spinocerebellar ataxia type 3	• Azorean disease • Azorean neurologic disease • Machado-Joseph disease • Nigrospinodentatal degeneration • Spinocerebellar atrophy type 3	Neurodegenerative disorders	ATXN3 ataxin 3	Reports Updated as of Apr 17, 2024	PubMed
Spinocerebellar ataxia type 16	• Spinocerebellar ataxia type 15/16 • Spinocerebellar Ataxia Type 15 • SCA16 (formerly)	Neurodegenerative disorders	ITPR1 inositol 1,4,5-trisphosphate receptor type 1	Reports Updated as of Apr 17, 2024	PubMed
Tyrosinemia type II	• TAT deficiency • Keratosis palmoplantaris with corneal dystrophy • Oculocutaneous tyrosinemia • Oregon type tyrosinemia • Richner Hanhart syndrome • Tyrosine aminotransferase deficiency • Tyrosine transaminase deficiency • Tyrosinemia type 2 • Tyrosinosis oculocutaneous type	Metabolic disorders	TAT tyrosine aminotransferase HPD 4-hydroxyphenylpyruvate dioxygenase	Reports Updated as of Jul 20, 2024	PubMed
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	• Glucose-6-phosphatase deficiency • Glucose-6-phosphatase deficiency glycogen storage disease • Glycogen Storage Disease Type Ia • Glycogen storage disease type 1A • Glycogenosis type 1 • Hepatorenal form of glycogen storage disease • Hepatorenal glycogenosis • Von Gierke disease • Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia • G6P deficiency type 1a • GSD due to G6P deficiency type Ia • GSDIa	Metabolic disorders	G6PC1 glucose-6-phosphatase catalytic subunit 1	Reports Updated as of Jul 20, 2024	PubMed
Glycogen storage disease type III	• Glycogen storage disease due to glycogen debranching enzyme deficiency • Amylo-1,6-glucosidase deficiency • Cori disease • Cori-Forbes disease • Forbes disease • Limit dextrinosis • GDE deficiency • GSD due to glycogen debranching enzyme deficiency • GSD type 3 • GSDIII • Glycogen storage disease type 3 • Glycogen storage disease type III	Metabolic disorders	AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase AFG3L2 AFG3 like matrix AAA peptidase subunit 2	Reports Updated as of Jul 20, 2024	PubMed
Glycogen storage disease, type IV	• GBE1 deficiency • Amylopectinosis • Andersen disease • Brancher deficiency • Cirrhosis, familial, with deposition of abnormal glycogen • Glycogenosis IV • GSD IV • Glycogen branching enzyme deficiency • Glycogen storage disease due to glycogen branching enzyme deficiency • Glycogen storage disease type 4	Metabolic disorders	GBE1 1,4-alpha-glucan branching enzyme 1 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1	Reports Updated as of Jul 20, 2024	PubMed
Glutaric aciduria, type 1	• Glutaryl-CoA dehydrogenase deficiency • Glutaric acidemia type 1 • Glutaric acidemia type I • Glutaricacidemia Type 1 • Glutaricaciduria, type I	Metabolic disorders	GCDH glutaryl-CoA dehydrogenase	Reports Updated as of Jul 20, 2024	PubMed
Congenital glucose-galactose malabsorption	• Glucose-galactose malabsorption • SGLT1 deficiency • Complex carbohydrate intolerance • Carbohydrate intolerance of glucose galactose • Glucose galactose malabsorption deficiency • Glucose-Galactose Malabsorption • Monosaccharide malabsorption	Metabolic disorders	SLC5A1 solute carrier family 5 member 1	Reports Updated as of Jul 20, 2024	PubMed
Autosomal recessive osteopetrosis 8	• OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 • OPTB8	Bone disorders	SNX10 sorting nexin 10	Reports Updated as of Jul 20, 2024	PubMed
Autosomal recessive osteopetrosis 1	• Osteopetrosis, autosomal recessive 1 • Albers-Schonberg disease, autosomal recessive • Marble bones autosomal recessive • Osteopetrosis infantile malignant 1 • TCIRG1-related autosomal recessive osteopetrosis	Bone disorders	TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	Reports Updated as of Jul 20, 2024	PubMed
Osteopetrosis with renal tubular acidosis	• Autosomal recessive osteopetrosis type 3 • Carbonic anhydrase 2 deficiency • Guibaud Vainsel syndrome • Marble brain disease • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	Bone disorders	CA2 carbonic anhydrase 2	Reports Updated as of Jul 20, 2024	PubMed
MHC class II deficiency	• Immunodeficiency by defective expression of MHC class II • Bare lymphocyte syndrome type 2 • Bare lymphocyte syndrome, type II, complementation group a • Bare Lymphocyte Syndrome • Bare lymphocyte syndrome 2 • SCID, HLA CLASS II-NEGATIVE • SCID, HLA Class 2-Negative • Severe combined immunodeficiency, HLA class II negative	Immune disorders	RFXANK regulatory factor X associated ankyrin containing protein RFX5 regulatory factor X5 RFXAP regulatory factor X associated protein CIITA class II major histocompatibility complex transactivator	Reports Updated as of Jul 20, 2024	PubMed
Multiple mitochondrial dysfunctions syndrome 5	• ISCA1 deficiency • MMDS5	Metabolic disorders	ISCA1 iron-sulfur cluster assembly 1	Reports Updated as of Jul 20, 2024	PubMed
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	• Combined oxidative phosphorylation deficiency 1 • Hepatoencephalopathy, early fatal progressive	Metabolic disorders	GFM1 G elongation factor mitochondrial 1 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial MRPL44 mitochondrial ribosomal protein L44	Reports Updated as of Jul 20, 2024	PubMed
Combined oxidative phosphorylation defect type 27	• Combined oxidative phosphorylation deficiency 27	Metabolic disorders	CARS2 cysteinyl-tRNA synthetase 2, mitochondrial	Reports Updated as of Jul 20, 2024	PubMed
Combined oxidative phosphorylation deficiency 53	• Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) • C2orf69-associated COXPD53 • Elbracht-Isikay syndrome • Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation	Neurodevelopmental disorders	C2orf69 chromosome 2 open reading frame 69	Reports Updated as of Jul 20, 2024	PubMed
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	• Navajo neuropathy • Mitochondrial DNA depletion syndrome type 6 • Navajo neurohepatopathy	Metabolic disorders	MPV17 mitochondrial inner membrane protein MPV17	Reports Updated as of Jul 20, 2024	PubMed
Aicardi-Goutieres syndrome 6	• Aicardi-Goutières syndrome • Encephalopathy with basal ganglia calcification • Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid • Pseudo-Torch syndrome • Aicardi-Toutieres syndrome • Type 6Aicardi-Goutieres syndrome 1	Multisystemic disorders	ADAR adenosine deaminase RNA specific	Reports Updated as of Jul 20, 2024	PubMed
Aicardi-Goutieres syndrome 4	• Aicardi-Goutières syndrome • Encephalopathy with basal ganglia calcification • Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid • Pseudo-Torch syndrome • Aicardi-Toutieres syndrome	Multisystemic disorders	RNASEH2A ribonuclease H2 subunit A	Reports Updated as of Jul 20, 2024	PubMed
Intestinal hypomagnesemia 1	• Primary hypomagnesemia with secondary hypocalcemia • Hypomagnesemia with secondary hypocalcemia • Hypomagnesemia tatany • Intestinal hypomagnesemia with secondary hypocalcemia • Hypomagnesemia caused by selective magnesium malabsorption • Hypomagnesemia intestinal type 1 • PHSH • HOMG1 • HSH	Metabolic disorders	TRPM6 transient receptor potential cation channel subfamily M member 6 TRPM7 transient receptor potential cation channel subfamily M member 7	Reports Updated as of Jul 20, 2024	PubMed
Primary hypomagnesemia	• Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis • Primary hypomagnesemia with hypercalciuria and nephrocalcinosis • FHHNC syndrome • Familial hypomagnesemia, hypercalciuria with nephrocalcinosis	Metabolic disorders	CLDN16 claudin 16	Reports Updated as of Jul 20, 2024	PubMed
Kartagener syndrome	• Dextrocardia bronchiectasis and sinusitis • Immotile cilia syndrome • Ciliary dyskinesia, primary, 1 • Ciliary dyskinesia, primary, 1, with or without situs inversus • Polynesian bronchiectasis • Primary ciliary dyskinesia 1: DNAI1-related primary ciliary dyskinesia • Siewert syndrome	Respiratory disorders	DNAI1 dynein axonemal intermediate chain 1 DNAH1 dynein axonemal heavy chain 1 DNAH5 dynein axonemal heavy chain 5 CCDC40 coiled-coil domain 40 molecular ruler complex subunit ODAD3 outer dynein arm docking complex subunit 3 DRC1 dynein regulatory complex subunit 1	Reports Updated as of Jul 20, 2024	PubMed
Acrodermatitis continua suppurativa of Hallopeau	• Acrodermatitis continua of hallopeau • Interleukin 36 receptor antagonist deficiency • Psoriasis 14, pustular	Skin disorders	IL36RN interleukin 36 receptor antagonist	Reports Updated as of Jul 20, 2024	PubMed
Ocular cystinosis	• Non-Nephropathic cystinosis • Cystinosis, adult, nonnephropathic • Cystinosis, benign, nonnephropathic • Cystinosis, ocular nonnephropathic	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Jul 20, 2024	PubMed
Bartter disease type 2	• Hyperprostaglandin E syndrome 2 • Bartter syndrome, type 2, antenatal • Hypokalemic alkalosis with hypercalciuria 2, antenatal	Nephrological disorders	KCNJ1 potassium inwardly rectifying channel subfamily J member 1	Reports Updated as of Jul 20, 2024	PubMed
Familial hypokalemia-hypomagnesemia	• Gitelman Syndrome • Potassium and magnesium depletion • Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria	Nephrological disorders	SLC12A3 solute carrier family 12 member 3 MMP2-AS1 MMP2 antisense RNA 1	Reports Updated as of Jul 20, 2024	PubMed
Xanthinuria type II	• XDH and AOX dual deficiency • Xanthine dehydrogenase and aldehyde oxidase combined deficiency of Xanthinuria type 2 • Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency	Metabolic disorders	MOCOS molybdenum cofactor sulfurase XDH xanthine dehydrogenase	Reports Updated as of Jul 20, 2024	PubMed
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	• Ornithine translocase deficiency syndrome • HHH syndrome • ORNT1 deficiency • Ornithine carrier deficiency • Ornithine translocase deficiency • Triple H syndrome	Metabolic disorders	SLC25A15 solute carrier family 25 member 15	Reports Updated as of Jul 20, 2024	PubMed
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	• Steroid 5-alpha-reductase 2 deficiency • 46,XY DSD due to 5-alpha-reductase 2 deficiency • Pseudovaginal perineoscrotal hypospadias • Familial incomplete male pseudohermaphroditism, type 2 • Male pseudohermaphroditism due to 5-alpha-reductase deficiency	Reproductive disorders	SRD5A2 steroid 5 alpha-reductase 2	Reports Updated as of Jul 20, 2024	PubMed
Werner syndrome	• adult premature aging syndrome • adult premature ageing syndrome • Werner's syndrome • adult progeria • WS	Aging disorders	WRN WRN RecQ like helicase	Reports Updated as of Feb 01, 2025	PubMed
Osteoporosis with pseudoglioma	• Osteoporosis-pseudoglioma syndrome • ocular form of osteogenesis imperfecta • osteogenesis imperfecta ocular form • osteoporosis pseudoglioma syndrome • pseudoglioma with bone fragility	Bone disorders	LRP5 LDL receptor related protein 5	Reports Updated as of Feb 01, 2025	PubMed
Wolcott-Rallison dysplasia	• Multiple epiphyseal dysplasia with early-onset diabetes mellitus • Wolcott-rallison syndrome • MED-IDDM syndrome • Wolcott Rallison syndrome	Multisystemic disorders	EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3	Reports Updated as of Feb 01, 2025	PubMed
Deficiency of aromatic-L-amino-acid decarboxylase	• AADC deficiency • Aromatic l-amino acid decarboxylase deficiency • aromatic L-amino acid decarboxylase deficiency • aromatic amino acid decarboxylase deficiency • DDC deficiency • DOPA decarboxylase deficiency	Metabolic disorders	DDC dopa decarboxylase	Reports Updated as of Feb 01, 2025	PubMed
Deficiency of hyaluronoglucosaminidase	• Mucopolysaccharidosis type 9 • Hyaluronidase deficiency • MPS9 • MPSIX • mucopolysaccharidosis type IX • MPS IX	Metabolic disorders/Lysosomal storage disorders	HYAL1 hyaluronidase 1	Reports Updated as of Feb 01, 2025	PubMed
Mucopolysaccharidosis type 7	• GUSB deficiency • beta-glucuronidase deficiency • deficiency of beta-glucuronidase • MPS VII - Sly syndrome • MPS7 • MPSVII • mucopolysaccharidosis type vii • mucopolysaccharidosis VII • mucopolysaccharidosis, mps-VII • Sly disease • Sly syndrome	Metabolic disorders/Lysosomal storage disorders	GUSB glucuronidase beta	Reports Updated as of Feb 01, 2025	PubMed
Mucopolysaccharidosis, MPS-III-A	• Heparan sulfate sulfatase deficiency • Sulfamidase deficiency • Sanfilippo syndrome A • Mucopolysaccharidosis type IIIA (Sanfilippo A) • mucopolysaccharidosis type iii • mucopolysaccharidosis, MPS-III • N-sulphoglucosamine sulphohydrolase deficiency • Sanfilippo disease • Sanfilippo syndrome A	Metabolic disorders/Lysosomal storage disorders	SGSH N-sulfoglucosamine sulfohydrolase GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Reports Updated as of Feb 01, 2025	PubMed
Congenital lipoid adrenal hyperplasia due to STAR deficency	• Congenital lipoid adrenal hyperplasia • Adrenal hyperplasia I • Cholesterol desmolase-deficient congenital adrenal hyperplasia • CLAH • Cholesterol monooxygenase (side-chain cleaving) deficiency • Lipoid CAH • Lipoid adrenal hyperplasia • Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism	Metabolic disorders	STAR steroidogenic acute regulatory protein	Reports Updated as of Feb 01, 2025	PubMed
Microcephaly 5, primary, autosomal recessive	• ASPM autosomal recessive primary microcephaly • autosomal recessive primary microcephaly caused by mutation in ASPM	Neurodevelopmental disorders	ASPM assembly factor for spindle microtubules	Reports Updated as of Feb 01, 2025	PubMed
Combined immunodeficiency due to DOCK8 deficiency	• Hyper-IgE recurrent infection syndrome, autosomal recessive • Cid due to DOCK8 deficiency • combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency • dedicator of cytokinesis 8 deficiency • DOCK8 immunodeficiency syndrome • Dock8 deficiency • HIES autosomal recessive • Hyper-IgE recurrent infection syndrome 2, autosomal recessive • Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections	Immune disorders	DOCK8 dedicator of cytokinesis 8	Reports Updated as of Feb 01, 2025	PubMed
Distal arthrogryposis type 5D	• ECEL1 distal arthrogryposis • distal arthrogryposis caused by mutation in ECEL1 • distal arthrogryposis type 5 without ophthalmoparesis • distal arthrogryposis type 5 without ophthalmoplegia • DA5D	Neuromuscular disorders	ECEL1 endothelin converting enzyme like 1	Reports Updated as of Feb 01, 2025	PubMed
Asphyxiating thoracic dystrophy 3	• Polydactyly with neonatal chondrodystrophy type 1 • Polydactyly with neonatal chondrodystrophy type III • short-rib thoracic dysplasia 3/6 with polydactyly, digenic • SRPS type 1 • SRPS type 3 • Saldino-Noonan syndrome • short rib polydactyly syndrome, Verma-Naumoff Type • short rib polydactyly syndrome 2B • short rib-polydactyly syndrome type 3 • short rib-polydactyly syndrome Saldino-Noonan type • short rib-polydactyly syndrome type 1 • short-rib polydactyly syndrome type I • short-rib polydactyly syndrome type III • short-rib thoracic dysplasia 3 with or without polydactyly • Verma Naumoff syndrome	Bone disorders	DYNC2H1 dynein cytoplasmic 2 heavy chain 1 NEK1 NIMA related kinase 1 DYNLT2B dynein light chain Tctex-type 2B BBS10 Bardet-Biedl syndrome 10 TMEM256 transmembrane protein 256 FAM98C family with sequence similarity 98 member C DYNC2I1 dynein 2 intermediate chain 1 DYNC2I2 dynein 2 intermediate chain 2 KIF24 kinesin family member 24	Reports Updated as of Feb 01, 2025	PubMed
Chédiak-Higashi syndrome	• Chediak-Higashi syndrome • Chédiak-Higashi-Steinbrink syndrome	Immune disorders	LYST lysosomal trafficking regulator	Reports Updated as of Feb 01, 2025	PubMed
Epidermolysis bullosa simplex 5B, with muscular dystrophy	• Epidermolysa bullosa simplex and limb girdle muscular dystrophy • EBS-MD • epidermolysis bullosa simplex and limb-girdle muscular dystrophy • epidermolysis bullosa simplex with muscular dystrophy • limb-girdle muscular dystrophy with epidermolysis bullosa simplex	Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
Epidermolysis bullosa simplex 5C, with pyloric atresia	• epidermolysis bullosa simplex with pyloric atresia • EBS-PA • PLEC-Related epidermolysis bullosa with pyloric atresia • PLEC1-Related epidermolysis bullosa with pyloric atresia	Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
Epidermolysis bullosa simplex with nail dystrophy		Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
Very long chain acyl-CoA dehydrogenase deficiency	• VLCAD Deficiency • acyl-CoA dehydrogenase, very long-chain deficiency • very long-chain acyl-CoA dehydrogenase deficiency • very long-chain acyl-Coenzyme A dehydrogenase deficiency • VLCAD	Metabolic disorders	ACADVL acyl-CoA dehydrogenase very long chain ACADL acyl-CoA dehydrogenase long chain	Reports Updated as of Feb 01, 2025	PubMed
Lethal congenital contracture syndrome 9		Neuromuscular disorders	ADGRG6 adhesion G protein-coupled receptor G6	Reports Updated as of Feb 01, 2025	PubMed
Sjögren-Larsson syndrome	• Fatty acid alcohol oxidoreductase deficiency • Senior-Løken Syndrome • Sjogren Larsson syndrome • Sjogren-Larsson's syndrome • Fatty alcohol:NAD+ oxidoreductase deficiency • Fatty aldehyde dehydrogenase deficiency • Ichthyosis, spastic neurologic disorder, and oligophrenia • FADH deficiency • FAO deficiency • Sjogren-Larsson syndrome	Metabolic disorders	ALDH3A2 aldehyde dehydrogenase 3 family member A2	Reports Updated as of Feb 01, 2025	PubMed
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	• Jankovic-Rivera syndrome • hereditary myoclonus-progressive distal muscular atrophy syndrome • hereditary myoclonus and progressive distal muscular atrophy • Spinal muscular atrophy with progressive myoclonic epilepsy • Jankovic Rivera syndrome	Neuromuscular disorders	ASAH1 N-acylsphingosine amidohydrolase 1	Reports Updated as of Feb 01, 2025	PubMed
Autosomal recessive multiple pterygium syndrome	• Autosomal recessive multiple pterygium syndrome • Escobar syndrome • Pterygium Colli syndrome • autosomal recessive non-lethal multiple pterygium syndrome • Escobar variant multiple pterygium syndrome • Multiple pterygium syndrome Escobar type • Multiple pterygium syndrome nonlethal type	Multisystemic disorders	CHRNG cholinergic receptor nicotinic gamma subunit CHRNA1 cholinergic receptor nicotinic alpha 1 subunit	Reports Updated as of Feb 01, 2025	PubMed
Lethal multiple pterygium syndrome		Multisystemic disorders	CHRND cholinergic receptor nicotinic delta subunit CHRNA1 cholinergic receptor nicotinic alpha 1 subunit CHRNG cholinergic receptor nicotinic gamma subunit	Reports Updated as of Feb 01, 2025	PubMed
Giant axonal neuropathy 1	• gan giant axonal neuropathy • giant axonal neuropathy caused by mutation in gan • giant axonal neuropathy type 1 • giant axonal neuropathy-1 • giant axonal neuropathy 1, autosomal recessive	Neurodegenerative disorders	GAN gigaxonin	Reports Updated as of Feb 01, 2025	PubMed
Hereditary insensitivity to pain with anhidrosis	• Hereditary sensory and autonomic neuropathy type 4 • CIP-anhidrosis syndrome • HSAN4 • congenital insensitivity to pain with anhidrosis • congenital insensitivity to pain-anhidrosis syndrome • hereditary sensory and autonomic neuropathy caused by mutation in NTRK1 • hereditary sensory and autonomic neuropathy type iv • hereditary sensory neuropathy type IV • insensitivity to pain, congenital, with anhidrosis • NTRK1 hereditary sensory and autonomic neuropathy • Familial dysautonomia, type 2 • Neuropathy, congenital sensory, with anhidrosis	Neuronal disorders	NTRK1 neurotrophic receptor tyrosine kinase 1	Reports Updated as of Feb 01, 2025	PubMed
Familial dysautonomia	• Riley-day syndrome • dysautonomia, familial • familial dysautonomia • hereditary sensory and autonomic neuropathy 3 • hereditary sensory and autonomic neuropathy type 3 • hereditary sensory and autonomic neuropathy type III • hereditary sensory neuropathy type 3 • HSAN 3 • HSAN III • HSAN3 • HSN 3 • neuropathy, hereditary sensory and autonomic, type 3 • neuropathy, hereditary sensory and autonomic, type III • Riley Day syndrome • FD	Neuromuscular disorders	ELP1 elongator acetyltransferase complex subunit 1	Reports Updated as of Feb 01, 2025	PubMed
Eichsfeld type congenital muscular dystrophy	• Rigid spine muscular dystrophy 1 • Congenital myopathy 3 with rigid spine • Myopathy, sepn1-related	Neuromuscular disorders	SELENON selenoprotein N	Reports Updated as of Feb 01, 2025	PubMed
Jervell and Lange-Nielsen syndrome	• Jervell-Lange Nielsen syndrome • Jervell and Lange Nielsen syndrome • long QT interval-deafness syndrome	Multisystemic disorders	KCNQ1 potassium voltage-gated channel subfamily Q member 1 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1	Reports Updated as of Feb 01, 2025	PubMed
Renal carnitine transport defect	• Systemic primary carnitine deficiency disease • Carnitine deficiency • Carnitine transporter defect • carnitine transporter deficiency • carnitine uptake defect • Carnitine uptake deficiency • CDSP • cud • deficiency of plasma-membrane carnitine transporter • primary carnitine deficiency • renal carnitine transport defect • SPCD • carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine • carnitine plasma-membrane transporter deficiency • Systemic primary carnitine deficiency	Metabolic disorders	SLC22A5 solute carrier family 22 member 5	Reports Updated as of Feb 01, 2025	PubMed
Carnitine acylcarnitine translocase deficiency	• Carnitine-acylcarnitine translocase deficiency • cact deficiency	Metabolic disorders	SLC25A20 solute carrier family 25 member 20	Reports Updated as of Feb 01, 2025	PubMed
Pontocerebellar hypoplasia type 9	• AMPD2 non-syndromic pontocerebellar hypoplasia • non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2 • PCH9	Neuromuscular disorders	AMPD2 adenosine monophosphate deaminase 2	Reports Updated as of Feb 01, 2025	PubMed
Brown-Vialetto-van Laere syndrome 2	• Riboflavin transporter deficiency type 2	Neuromuscular disorders	SLC52A2 solute carrier family 52 member 2	Reports Updated as of Feb 01, 2025	PubMed
Myoglobinuria, acute recurrent, autosomal recessive	• myoglobinuria, familial paroxysmal paralytic • myoglobinuria, recurrent, autosomal recessive • rhabdomyolysis, acute recurrent	Metabolic disorders	LPIN1 lipin 1	Reports Updated as of Feb 01, 2025	PubMed
Charlevoix-Saguenay spastic ataxia	• autosomal recessive spastic ataxia type 6 • ARSACS • SPAX6 • autosomal recessive spastic ataxia of Charlevoix-Saguenay • spastic ataxia 6, autosomal recessive • spastic ataxia of Charlevoix-Saguenay	Neurodegenerative disorders	SACS sacsin molecular chaperone	Reports Updated as of Feb 01, 2025	PubMed
Congenital generalized lipodystrophy type 1	• AGPAT2 congenital generalised lipodystrophy (disease) • AGPAT2 congenital generalized lipodystrophy (disease) • Berardinelli-Seip congenital lipodystrophy, type 1 • Brunzell syndrome AGPAT2-related • BSCL1 • CGL1 • congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2 • congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2	Metabolic disorders	AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2	Reports Updated as of Feb 01, 2025	PubMed
Klippel-Feil syndrome 2, autosomal recessive	• Cervical vertebral fusion, autosomal recessive • KFS, autosomal recessive • Klippel-Feil syndrome 2 • Klippel Feil syndrome autosomal recessive	Bone disorders	MEOX1 mesenchyme homeobox 1	Reports Updated as of Feb 01, 2025	PubMed
Agenesis of the corpus callosum with peripheral neuropathy	• Andermann syndrome • Charlevoix disease • corpus callosum agenesis-neuronopathy syndrome • hereditary motor and sensory neuropathy with agenesis of the corpus callosum • peripheral neuropathy associated with agenesis of the corpus callosum • Agenesis of corpus callosum with neuronopathy • Agenesis of corpus callosum with peripheral neuropathy • Agenesis of corpus callosum with polyneuropathy • Corpus callosum agenesis neuronopathy • Hmsn/acc • Hereditary motor and sensory neuropathy with agenesis of the corpus callosum • Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum	Neurodegenerative disorders	SLC12A6 solute carrier family 12 member 6	Reports Updated as of Feb 01, 2025	PubMed
Fetal akinesia deformation sequence 3	• DOK7-Related Fetal Akinesia Deformation Sequence	Respiratory disorders	DOK7 docking protein 7 DOCK7 dedicator of cytokinesis 7	Reports Updated as of Feb 01, 2025	PubMed
Fetal akinesia deformation sequence 1	• Lethal Pena-Shokeir 1 syndrome • Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome • Fetal akinesia sequence • Pena Shokeir syndrome, type 1 • Pena-Shokeir syndrome type I	Respiratory disorders	MUSK muscle associated receptor tyrosine kinase DOK7 docking protein 7 RAPSN receptor associated protein of the synapse ASCC1 activating signal cointegrator 1 complex subunit 1 VPS13D vacuolar protein sorting 13 homolog D ASPM assembly factor for spindle microtubules CHRNG cholinergic receptor nicotinic gamma subunit ASAH1 N-acylsphingosine amidohydrolase 1 ADSS1 adenylosuccinate synthase 1 EARS2 glutamyl-tRNA synthetase 2, mitochondrial LGI4 leucine rich repeat LGI family member 4 RYR1 ryanodine receptor 1 GLDN gliomedin	Reports Updated as of Feb 01, 2025	PubMed
Pyruvate kinase deficiency of red cells	• Hemolytic anemia due to red cell pyruvate kinase deficiency • hemolytic anaemia due to red cell pyruvate kinase deficiency • hemolytic Anemia due to pyruvate Kinase deficiency • hemolytic anemia due to red cell pyruvate kinase deficiency • pyruvate kinase deficiency of erythrocytes • PK deficiency • Pyruvate kinase deficiency of erythrocyte • Pyruvate kinase deficiency • Pyruvate kinase deficiency of erythrocytes • Pyruvate kinase deficiency,amish type	Metabolic disorders	PKLR pyruvate kinase L/R	Reports Updated as of Feb 01, 2025	PubMed
Fibrosis of extraocular muscles, congenital, 2	• PHOX2A-related congenital fibrosis of the extraocular muscles • congenital fibrosis of the extraocular muscles 2 • FEOM2 locus • fibrosis of extraocular muscles, congenital, autosomal recessive	Neuromuscular disorders	PHOX2A paired like homeobox 2A	Reports Updated as of Feb 01, 2025	PubMed
Infantile neuroaxonal dystrophy	• Neurodegeneration with brain iron accumulation 2a • Seitelberger disease • inaD • infantile neuroaxonal dystrophy 1 • NBIA2A • neurodegeneration with brain iron accumulation type 2a • neurodegeneration, pla2g6-associated • phospholipase A2-associated neurodegeneration • PLAN	Neurodegenerative disorders	PLA2G6 phospholipase A2 group VI	Reports Updated as of Feb 01, 2025	PubMed
Glycogen storage disease, type V	• Mcardle disease • glycogen storage disease caused by mutation in PYGM • glycogen storage disease type 5 • glycogen storage disease type V • glycogen storage disease, type V • glycogenosis due to muscle glycogen phosphorylase deficiency • glycogenosis type 5 • glycogenosis type V • GSD due to muscle glycogen phosphorylase deficiency • GSD type 5 • GSD type V • McArdle's disease • myophosphorylase deficiency • PYGM glycogen storage disease • GSD 5 • muscle glycogen phosphorylase deficiency • McArdle type glycogen storage disease • pygm deficiency	Metabolic disorders	PFKM phosphofructokinase, muscle PYGM glycogen phosphorylase, muscle associated PYGL glycogen phosphorylase L	Reports Updated as of Feb 01, 2025	PubMed
Myopathy, lactic acidosis, and sideroblastic anemia 1		Metabolic disorders	PUS1 pseudouridine synthase 1	Reports Updated as of Feb 01, 2025	PubMed
Cerebellar ataxia-hypogonadism syndrome	• Gordon-Holmes syndrome • luteinizing hormone-releasing hormone deficiency with ataxia • Cerebellar ataxia hypogonadotropic hypogonadism • Gordon Holmes syndrome • Lhrh deficiency and ataxia • Luteinizing hormone releasing hormone, deficiency of with ataxia	Multisystemic disorders	RNF216 ring finger protein 216	Reports Updated as of Feb 01, 2025	PubMed
Marinesco-Sjögren syndrome	• Oligophrenic cerebellolenticular degeneration • Garland-Moorhouse syndrome • hereditary oligophrenic cerebello-lental degeneration • Marinesco-Garland syndrome • Marshall Smith Syndrome • Marinesco-Sjogren Syndrome • Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism • Marinesco-Sjogren Syndrome-Myopathy • Marinesco-Sjogren-Garland Syndrome • Marinesco-SjÃ¶gren syndrome	Neurodegenerative disorders	SIL1 SIL1 nucleotide exchange factor	Reports Updated as of Feb 01, 2025	PubMed
Imerslund-Grasbeck syndrome type 1	• Selective cobalamin malabsorption with proteinuria • Enterocyte cobalamin malabsorption • Gräsbeck-imerslund disease • Imerslund-Gräsbeck syndrome • Defect of enterocyte intrinsic factor receptor • Juvenile pernicious anemia with proteinuria due to selective intestinal malabsorption of vitamin B12 • Megaloblastic anemia 1 • Familial megaloblastic anaemia • Familial megaloblastic anemia • Juvenile megaloblastic Anemia • Selective cobalamin malabsorption with proteinuria	Metabolic disorders	CUBN cubilin	Reports Updated as of Feb 04, 2025	PubMed
Merosin deficient congenital muscular dystrophy	• Congenital merosin-deficient muscular dystrophy 1A • Muscular dystrophy congenital, merosin negative • CMD1A • congenital merosin-deficient muscular dystrophy type 1A • congenital muscular dystrophy caused by mutation in LAMA2 • congenital muscular dystrophy due to laminin alpha2 deficiency • LAMA2 congenital muscular dystrophy • MDC1A • merosin-deficient congenital muscular dystrophy type 1A • merosin-negative congenital muscular dystrophy • muscular dystrophy, congenital merosin-deficient, type 1A • muscular dystrophy, congenital, merosin deficient or partially deficient	Neuromuscular disorders	LAMA2 laminin subunit alpha 2	Reports Updated as of Feb 04, 2025	PubMed
Grebe syndrome	• Acromesomelic dysplasia 2a • acromesomelic dysplasia, Grebe type • chondrodysplasia, Grebe type • Grebe chondrodysplasia • Grebe dysplasia • Langer-Saldino achondrogenesis • type II achondrogenesis • Brazilian achondrogenesis	Bone disorders	GDF5 growth differentiation factor 5	Reports Updated as of Feb 04, 2025	PubMed
Yunis-Varon syndrome	• Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia • cleidocranial dysplasia-micrognathia-absent thumbs syndrome • Yunis Varon syndrome • Yunis-Varón syndrome • Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia	Bone disorders	FIG4 FIG4 phosphoinositide 5-phosphatase VAC14 VAC14 component of PIKFYVE complex	Reports Updated as of Feb 04, 2025	PubMed
Microcephaly, normal intelligence and immunodeficiency	• Nijmegen breakage syndrome • Ataxia-telangiectasia, variant 1 • Berlin breakage syndrome • immunodeficiency-microcephaly-chromosomal instability syndrome • microcephaly-immunodeficiency-lymphoreticuloma syndrome • microcephaly, normal intelligence and immunodeficiency • Seemanova syndrome • Seemanova syndrome type 2 • Ataxia telangiectasia variant v1 • Immunodeficiency, microcephaly, and chromosomal instability • Immunodeficiency, microcephaly with normal intelligence • Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies • Nonsyndromal microcephaly autosomal recessive with normal intelligence • AT V1	Immune disorders	NBN nibrin	Reports Updated as of Feb 26, 2025	PubMed
Ichthyosis linearis circumflexa	• -	Skin disorders	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Feb 26, 2025	PubMed
LAMA2-related muscular dystrophy	• Congenital merosin-deficient muscular dystrophy 1A • LAMA2 congenital muscular dystrophy • congenital merosin-deficient muscular dystrophy type 1A • congenital muscular dystrophy caused by mutation in LAMA2 • congenital muscular dystrophy due to laminin alpha2 deficiency • merosin-deficient congenital muscular dystrophy type 1A • merosin-negative congenital muscular dystrophy • muscular dystrophy, congenital merosin-deficient, type 1A • muscular dystrophy, congenital, merosin deficient or partially deficient • Laminin Alpha-2 Deficiency • Laminin alpha 2-related dystrophy • Merosin deficient congenital muscular dystrophy • Congenital merosin-deficient muscular dystrophy 1A • Muscular dystrophy congenital, merosin negative • CMD1A • MDC1A	Neuromuscular disorders	LAMA2 laminin subunit alpha 2	Reports Updated as of Feb 26, 2025	PubMed
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	• -	Neurodevelopmental disorders	NALCN sodium leak channel, non-selective	Reports Updated as of Feb 26, 2025	PubMed
Meckel syndrome, type 4	• CEP290-Related Meckel Syndrome • Meckel-Gruber syndrome, type 4	Multisystemic disorders	CEP290 centrosomal protein 290 TMEM218 transmembrane protein 218	Reports Updated as of Feb 26, 2025	PubMed
Galactosylceramide beta-galactosidase deficiency	• Krabbe disease • Beta galactocerebrosidase deficiency • Diffuse globoid body sclerosis • galactocerebrosidase deficiency • galactosylceramidase deficiency • galactosylceramide lipidosis • GALC deficiency • globoid cell leukodystrophy • globoid cell leukoencephalopathy • Krabbe's disease • Krabbe's leukodystrophy • Leukodystrophy, Krabbe's • Krabbe leukodystrophy • Leukodystrophy, globoid cell	Metabolic disorders	GALC galactosylceramidase PSAP prosaposin	Reports Updated as of Feb 26, 2025	PubMed
Autosomal recessive hyper-IgE syndrome	• Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	Immune disorders	DOCK8 dedicator of cytokinesis 8	Reports Updated as of Feb 26, 2025	PubMed
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	• Cerebroocular dysgenesis • Chemke syndrome • COD-MD syndrome • Cerebroocular dysplasia muscular dystrophy syndrome • Hard +/- E syndrome • Hydrocephalus, agyria and retinal dysplasia • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 • Pagon syndrome • WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED • Warburg syndrome	Multisystemic disorders	POMT1 protein O-mannosyltransferase 1	Reports Updated as of Feb 26, 2025	PubMed
Autosomal recessive limb-girdle muscular dystrophy type 2A	• Calpainopathy • Leyden-Moebius muscular dystrophy • autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3 • CAPN3 autosomal recessive limb-girdle muscular dystrophy • limb-girdle muscular dystrophy due to calpain deficiency • limb-girdle muscular dystrophy type 2A • muscular dystrophy, limb-girdle, autosomal recessive 1 • muscular dystrophy, limb-girdle, type 2A • pelvofemoral muscular dystrophy • primary calpainopathy • LGMD2A	Neuromuscular disorders	CAPN3 calpain 3	Reports Updated as of Feb 26, 2025	PubMed
Mucopolysaccharidosis type 1	• Alpha-L-iduronidase deficiency • iduronidase deficiency disease • lipochondrodystrophy • MPS I - Hurler syndrome • MPS1 • MPSI • mucopolysaccharidosis type i • mucopolysaccharidosis, MPS-I • mucopolysaccharidosis, type 1 • Attenuated MPS I (subtype) • Hurler-Scheie syndrome (former subtype) • IDUA deficiency • Mucopolysaccharidosis Type I • Scheie syndrome (former subtype • formerly known as Mucopoly-saccharidosis type V) • Severe MPS I (subtype)	Metabolic disorders/Lysosomal storage disorders	IDUA alpha-L-iduronidase	Reports Updated as of Feb 26, 2025	PubMed
ALG1-congenital disorder of glycosylation	• Carbohydrate deficient glycoprotein syndrome type Ik • CDG syndrome type Ik • congenital disorder of glycosylation type 1k • congenital disorder of glycosylation type Ik • mannosyltransferase 1 deficiency • CDG-Ik • CDG1K • ALG1-CDG • ALG1-CDG (CDG-Ik) • CDG 1K • CDG Ik	Metabolic disorders	ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	Reports Updated as of Feb 26, 2025	PubMed
Progressive sclerosing poliodystrophy	• Mitochondrial dna depletion syndrome 4a • Alper syndrome • Poliodystrophia cerebri progressiva • Progressive cerebral poliodystrophy • Alper's disease • Alper's syndrome • Alpers disease • Alpers Huttenlocher disease • Alpers Huttenlocher syndrome • Alpers progressive infantile poliodystrophy • Alpers progressive sclerosing poliodystrophy • Alpers syndrome • Alpers-Huttenlocher syndrome • Alpers disease or gray-matter degeneration • mitochondrial DNA depletion syndrome type 4a • progressive neuronal degeneration of childhood with liver disease • Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis • Alpers-Huttenlocher Syndrome • Diffuse cerebral degeneration in infancy • Infantile poliodystrophy • Mitochondrial DNA depletion syndrome 4A (Alpers type) • Neuronal degeneration of childhood with liver disease, progressive • AHD • AHS	Neurodegenerative disorders	POLG DNA polymerase gamma, catalytic subunit EDAR ectodysplasin A receptor	Reports Updated as of Feb 26, 2025	PubMed
Congenital hypotrichosis with juvenile macular dystrophy	• Hypotrichosis with cone-rod dystrophy • hypotrichosis with juvenile macular dystrophy • Juvenile macular degeneration and hypotrichosis • Juvenile macular dystrophy and congenital hypotrichosis • hjmd	Hair disorders	CDH3 cadherin 3	Reports Updated as of Feb 26, 2025	PubMed
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	• methylene tetrahydrofolate reductase deficiency • MTHFR deficiency • Methylenetetrahydro-folate reductase deficiency • 5,10-alpha-methylenetetrahydro-folate reductase deficiency • Homocysteinuria due to mthfr deficiency • Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity • Homocysteinemia due to mthfr deficiency • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency • Homocystinuria due to mthfr deficiency	Metabolic disorders/Lysosomal storage disorders	MTHFR methylenetetrahydrofolate reductase	Reports Updated as of Feb 26, 2025	PubMed
Cerebrooculofacioskeletal syndrome 2		Multisystemic disorders	ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit	Reports Updated as of Feb 26, 2025	PubMed
Glycogen storage disease, type VII	• Glycogen storage disease caused by mutation in PFKM • Tarui disease • Muscle phosphofructokinase deficiency • glycogen storage disease type 7 • glycogen storage disease type VII • glycogen storage disease, type VII • glycogenosis due to muscle phosphofructokinase deficiency • glycogenosis type 7 • glycogenosis type VII • GSD due to muscle phosphofructokinase deficiency • PFKM glycogen storage disease • phosphofructokinase deficiency • phosphofructokinase myopathy • GSD type 7 • GSD type VII • GSDVII • Pfkm deficiency	Metabolic disorders	PFKM phosphofructokinase, muscle	Reports Updated as of Feb 26, 2025	PubMed
Severe early-childhood-onset retinal dystrophy	• Stargardt disease 1 • Juvenile onset macular degeneration • early-onset severe retinal dystrophy • ABCA4-Related Stargardt Disease 1 • CNGB3-Related Stargardt Disease 1 • Stargardt macular dystrophy • Macular dystrophy with flecks, type 1 • STGD • EOSRD • SECORD	Eye disorders	CNGB3 cyclic nucleotide gated channel subunit beta 3 ABCA4 ATP binding cassette subfamily A member 4	Reports Updated as of Feb 26, 2025	PubMed