Rare Disease Library

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

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

Harlequin ichthyosis

HI · Ichthyosis congenita, Harlequin type

Allergic bronchopulmonary aspergillosis

ABPA · Allergic aspergillosis

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Episodic memory defect leukoencephalopathy

White matter hyperintensities-episodic memory defect leukoencephalopathy · Hippocampal memory defect leukoencephalopathy

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Hereditary inclusion body myopathy type 4

HIBM4

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 4

HIGM4

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Hyper-IgM syndrome with susceptibility to opportunistic infections

HIGM with susceptibility to opportunistic infections

Hyper-IgM syndrome without susceptibility to opportunistic infections

HIGM without susceptibility to opportunistic infections

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Insulin autoimmune syndrome

Hirata disease

Kikuchi-Fujimoto disease

Histiocytic necrotizing lymphadenitis · Kikuchi disease

Langerhans cell histiocytosis

Histiocytosis X · Langerhans cell granulomatosis