Rare Disease Library

Progressive osseous heteroplasia

Familial ectopic ossification · POH

Amelo-onycho-hypohidrotic syndrome

Ameloonychohypohidrotic ectodermal dysplasia · Ameloonychohypohidrotic syndrome

Amelocerebrohypohidrotic syndrome

Epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschütter-Tönz syndrome

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

Autosomal recessive hypohidrotic ectodermal dysplasia

AR-HED

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

HELIX syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Shaheen syndrome

Hypohidrotic ectodermal dysplasia

HED

Hypohidrotic ectodermal dysplasia with immunodeficiency

HED-ID

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

OL-HED-ID

MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED