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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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O
Disorder Name Genes Alternate Names OMIM Inheritance
Orofaciodigital Syndrome, Type VI TMEM216, C5orf42 Varadi syndrome, OFDVI 277170 autosomal recessive?
Osteogenesis Imperfecta COL1A1, COL1A2 brittle bone syndrome, OI, osteogenesis imperfecta 166200, 166210, 259420, 166220 autosomal dominant
Osteogenesis Imperfecta, Type VII CRTAP OI7, OI type VII, lethal osteogenesis imperfecta 610682112240 autosomal recessive
Osteoporosis-Pseudoglioma Syndrome LRP5 OPPG, OPS, ocular osteogenesis imperfecta 259770 autosomal recessive
P
Disorder Name Genes Alternate Names OMIM Inheritance
Palmoplantar Keratoderma and Woolly Hair KANK2 PPKWH 616099 autosomal recessive
Pantothenate Kinase-Associated Neurodegeneration PANK2 pantothenate kinase deficiency, Hallervorden-Spatz disease, NBIA1, PKAN 234200 autosomal recessive
Papillorenal Syndrome PAX2 renal-coloboma syndrome, optic nerve coloboma with renal disease 120330 autosomal dominant
Pearson Marrow-Pancreas Syndrome mitochondria sideroblastic anemia and exocrine pancreatic dysfunction, Pearson syndrome 557000 mitochondrial
PEHO Syndrome ZNHIT3 progressive encephalopathy with edema hypsarrhythmia and optic atrophy, infantile cerebello-optic atrophy, PEHO 260565 autosomal recessive
PEHO-Like Syndrome CCDC88A PEHOL, progressive encephalopathy with edema hypsarrhythmia and optic atrophy-like syndrome 617507 autosomal recessive
Pelizeaus-Merzbacher Disease PLP1 hypomyelinating leukodystrophy, HLD1, PMD 213080 X-linked recessive
Peroxisome Biogenesis Disorder 1A (Zellweger) PEX genes cerebrohepatorenal syndrome, CHR syndrome, ZWS, Zellweger spectrum disorder, Zellweger syndrome, PBD1A 214100 autosomal recessive
Peroxisome Biogenesis Disorder 1B (neonatal adrenoleukodystrophy) PEX1, PEX2, PEX6 IRD, infantile phytanic acid storage disease, infantile Refsum disease, PBD1B, autosomal neonatal adrenoleukodystrophy, PEX12 266510, 601539 autosomal recessive
Peroxisome Biogenesis Disorder 3B (Infantile Refsum Disease) PEX1, PEX2, PEX26, PEX12, PEX3 IRD, infantile phytanic acid storage disease, infantile Refsum disease, PBD3B 266510 autosomal recessive
Peroxisomol Fatty Acyl-CoA Reductase 1 Disorder FAR1 PFCRD 616154 autosomal recessive
Perrault Syndrome HSD17B4 PRLTS1 233400, 614926, 614129, 615300, 616138 autosomal recessive, autosomal dominant
Persistent Hyperplastic Primary Vitreous ATOH7 PHPV, persistent fetal vasculature, PFV 611311, 611308 autosomal recessive, autosomal dominant?
Peters Anomaly PAX6, CYP1B1, PITX2, FOXC1, FOXE3 604229 autosomal recessive, autosomal dominant
Peters-Plus Syndrome B3GALTL Krause-Kivlin syndrome, Peters anomaly with short-limb dwarfism 261540 autosomal recessive
Pfeiffer Syndrome FGFR2, FGFR1 acrocephalosyndactyly type V, ACS5 101600 autosomal dominant
Pierson Syndrome LAMB2 microcoria-congenital nephrotic syndrome 609049 autosomal recessive
Pigmentary Retinopathy with Congenital Sideroblastic Anemia TRNT1 SIFD 616284 autosomal recessive
Pigmented Paravenous Chorioretinal Atrophy CRB1 PPCRA 172870 autosomal dominant
Pontocerebellar Hypoplasia 11 TBC1D3 PCH11 617695 autosomal recessive
Pontocerebellar Hypoplasia 3 PCLO PCH3, cerebellar atrophy with progressive microcephaly, CLAM, PCH with optic atrophy 608027 autosomal recessive
Pontocerebellar Hypoplasia 7 TOE1 PCH7 614969 autosomal recessive
Potter Disease, Type I ALG9 polycystic kidney disease, Potter syndrome type I 263210 autosomal recessive?
Progeroid Short Stature with Pigmented Nevi ? Mulvihill-Smith syndrome 176690 presumed autosomal recessive
Pseudohypoparathyroidism, Type 1A GNAS PHP1A, Albright hereditary osteodystrophy with multiple hormone resistance 103580 autosomal dominant
Pseudoxanthoma Elasticum ABCC6 PXE, Gronblad-Strandberg syndrome 264800 autosomal recessive
Pseudoxanthoma Elasticum-Like Disease ABCC6, GGCX PXE-like disorder with multiple coagulation factor deficiency 610842 autosomal recessive
R
Disorder Name Genes Alternate Names OMIM Inheritance
RAB18 Deficiency RAB3GAP1, RAB3GAP2, RAB18, TBC1D20 Warburg micro syndrome, Martsolf syndrome, WARBM1, WARBM2, WARBM3, WARBM4 600118 autosomal recessive
Refsum Disease, Adult PEX7, PHYH classic Refsum disease, phytanic acid oxidase deficiency, heredopathia atactica polyneuritiformis, HMSN IV, adult Refsum disease-1, adult Refsum disease-2, macular degeneration, nystagmus, optic atrophy 266500 autosomal recessive
Retinal Arteriolar Tortuosity COL4A1 HANAC, hereditary angiopathy with nephropathy aneurysms and muscle cramps, retinal hemorrhage with vascular tortuosity, FRAT, RATOR 611773, 180000 autosomal dominant
Retinal Cone Dystrophy 3B KCNV2 cone dystrophy with supernormal rod responses, cone dystrophy with night blindness, RCD3B, CDSRR 610356 autosomal recessive
Retinal Detachment with Lattice Degeneration ? lattice degeneration of the retina with detachment 150500 autosomal dominant
Retinal Dystrophy and Obesity TUB RDOB 616188 autosomal recessive
Retinal Dystrophy with Inner Retinal Abnormalities ITM2B RDGCA 616079 autosomal dominant
Retinal Dystrophy With Or Without Extraocular Anomalies RCBTB1 RDEOA 617175 autosomal recessive
Retinal Dystrophy with or without Macular Staphyloma C21orf2 RDMS 617547 autosomal recessive
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