Rare Disease Library

Hypotrichosis with juvenile macular degeneration

HJMD · Hypotrichosis with juvenile macular dystrophy

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Hypotrichosis-intellectual disability, Lopes type

Lopes-Marques de Faria syndrome

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Idiopathic copper-associated cirrhosis

Non-Wilsonian hepatic copper toxicosis of infancy and childhood

Incomplete septal cirrhosis

Incomplete septal fibrosis

Infantile hypophosphatasia

Infantile phosphoethanolaminuria · Infantile Rathbun disease

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

Isolated asymptomatic elevation of creatine phosphokinase

Isolated asymptomatic hyperCKemia · Idiopathic asymptomatic hyperCKemia

Isolated oxidative phosphorylation complex disorder

Isolated respiratory chain complex disorder

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic EDS · kEDS

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP22-deficient EDS

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

Lathosterolosis

Sterol C5-desaturase deficiency

Ledderhose disease

Plantar fibromatosis

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Low phospholipid-associated cholelithiasis

LPAC · ABCB4-related cholelithiasis

Lysosomal acid phosphatase deficiency

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Metaphyseal dysplasia without hypotrichosis

Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

Mild phosphoribosylpyrophosphate synthetase superactivity

Mild PRPP synthetase superactivity · Mild PRPS1 superactivity

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Mitochondrial oxidative phosphorylation disorder

OXPHOS disease

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA · OXPHOS disease due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA · OXPHOS disease due to a point mutation of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies · OXPHOS disease due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies · OXPHOS disease due to nDNA anomalies

Mitochondrial oxidative phosphorylation disorder with no known mechanism

OXPHOS disease with no known mechanism

Neonatal antiphospholipid syndrome

Neonatal Hughes syndrome · Neonatal antiphospholipid antibody syndrome

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency, prenatal form

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

OBSOLETE: Anemia due to adenosine triphosphatase deficiency

OBSOLETE: Eyebrow/eyelashes hypertrichosis

OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency

OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome

OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA

OBSOLETE: OXPHOS disease due to a duplication of mtDNA · OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA