Rare Disease Library

Hypohidrotic ectodermal dysplasia

HED

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

Hypohidrotic ectodermal dysplasia with immunodeficiency

HED-ID

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

CELSR1-related late-onset primary lymphedema

Cholestasis-lymphedema syndrome

Aagenaes syndrome

Congenital primary lymphedema of Gordon

VEGFC-related congenital primary lymphedema

Congenital primary lymphedema without systemic or visceral involvement

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Disorder of branched-chain amino acid metabolism

Disorder with multisystemic involvement and primary lymphedema

GJC2-related late-onset primary lymphedema

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

OL-HED-ID

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Late-onset primary lymphedema without systemic or visceral involvement

Lymphedema with yellow nails

Yellow nail syndrome · YNS

Lymphedema-atrial septal defects-facial changes syndrome

Irons-Bianchi syndrome · Irons-Bhan syndrome

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

Lymphedema-distichiasis syndrome

Lymphedema-posterior choanal atresia syndrome

Lymphedema-ptosis syndrome

Microcephaly-cutis verticis gyrata-lymphedema syndrome

Microcephaly-lymphedema-chorioretinopathy syndrome

MLCRD

Non-hereditary congenital primary lymphedema

Non-hereditary late-onset primary lymphedema

Meige-like disease

OBSOLETE: Genetic primary lymphedema

OBSOLETE: Lymphedema

OBSOLETE: Lymphedema praecox

OBSOLETE: Lymphedema tarda

OBSOLETE: Lymphedema-cleft palate syndrome

OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome

OBSOLETE: Primary lymphedema with associated anomalies

OBSOLETE: Syndromic lymphedema

Primary lymphedema

Primary lymphedema with systemic or visceral involvement

Primary lymphedema without systemic or visceral involvement

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

X-linked intellectual disability, Hedera type

MRXSH

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

Autosomal recessive hypohidrotic ectodermal dysplasia

AR-HED

Hereditary elliptocytosis

HE