Clinical Disorder Search
Alphabetical List Grouped by Letter
| 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 |