Rare Disease Library

Hidrotic ectodermal dysplasia

Clouston syndrome

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

Hidrotic ectodermal dysplasia, Halal type

Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome

High altitude pulmonary edema

HAPE

High bone mass osteogenesis imperfecta

High bone mass OI

High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

High-grade astrocytoma

High-grade dysplasia in patients with Barrett esophagus

High-grade neuroendocrine carcinoma of the cervix uteri

Poorly differentiated neuroendocrine carcinoma of the cervix uteri · Poorly differentiated neuroendocrine cervical carcinoma

High-grade neuroendocrine carcinoma of the corpus uteri

Poorly differentiated neuroendocrine carcinoma of the corpus uteri · Poorly differentiated neuroendocrine carcinoma of the endometrium

Hinman syndrome

HAS · HS

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

Hirschsprung disease

Aganglionic megacolon · Congenital intestinal aganglionosis

Hirschsprung disease-deafness-polydactyly syndrome

Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome

Hirschsprung disease-ganglioneuroblastoma syndrome

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

Hirschsprung disease-type D brachydactyly syndrome

His bundle tachycardia

JET · Junctional ectopic tachycardia

Histidinemia

HAL deficiency · HIS deficiency

Histidinuria-renal tubular defect syndrome

Histiocytic and dendritic cell tumor

Histiocytic sarcoma

Histiocytoid cardiomyopathy

Foamy myocardial transformation of infancy · Infantile cardiomyopathy with histiocytoid change

Histoplasmosis

Darling disease

HIV-associated cancer

HIV-related cancer

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

Hobnail hemangioma

HH · Targetoid hemosiderotic hemangioma

Hodgkin lymphoma

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Holmes-Gang syndrome

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Holoprosencephaly

HPE

Holoprosencephaly-caudal dysgenesis syndrome

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Holzgreve syndrome

Holzgreve-Wagner-Rehder syndrome · Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome

Homocarnosinosis

Homocarnosinase deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

MTHFR deficiency · Methylene tetrahydrofolate reductase deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Homozygous 2p21 microdeletion syndrome

2p21 contiguous gene deletion syndrome

Homozygous familial hypercholesterolemia

HoFH