Rare Disease Library

Hypophosphatasia

HPP · Phosphoethanolaminuria

Hypophosphatemic rickets

Hypopigmentation of the skin

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Hypopituitarism-micropenis-cleft lip/palate syndrome

Hypopituitarism-microphthalmia syndrome

Kaplowitz-Bodurtha syndrome

Hypoplasia of the mitral valve annulus

Hypoplasminogenemia

Plasminogen deficiency type 1

Hypoplastic amelogenesis imperfecta

Amelogenesis imperfecta type 1

Hypoplastic left heart syndrome

HLHS

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

Hypoplastic right heart syndrome

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

Hypospadias-hypertelorism-coloboma and deafness syndrome

Hypospadias-hypertelorism-coloboma and hearing loss syndrome

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

Hypothalamic adipsic hypernatraemia syndrome

Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Hypothyroidism due to TSH receptor mutations

Hypotonia with lactic acidemia and hyperammonemia

COXPD5 · Combined oxidative phosphorylation defect type 5

Hypotonia-cystinuria syndrome

HCS

Hypotonia-cystinuria type 1 syndrome

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Hypotonia-speech impairment-severe cognitive delay syndrome

Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency

Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency

Hypotrichosis simplex

Hereditary hypotrichosis simplex

Hypotrichosis simplex of the scalp

Hereditary hypotrichosis simplex of the scalp

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

Iatrogenic botulism

Inadvertent botulism

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

ICHAD syndrome

Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome

Ichthyosis

Ichthyosis follicularis-alopecia-photophobia syndrome

IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome

Ichthyosis hystrix gravior

Ichthyosis, Lambert type

Ichthyosis hystrix of Curth-Macklin

Ichthyosis hystrix, Curth-Macklin type

Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Jagell-Holmgren-Hofer syndrome

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Dykes-Marks-Harper syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome