Preferred Label : Ectodermal dysplasia 9, hair/nail type;
Symbol : ECTD9;
CISMeF acronym : ECTD9;
Type : Phenotype, molecular basis known;
Description : Some ectodermal dysplasias are here classified as congenital disorders characterized
by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and
sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail
type is a rare congenital condition characterized by hypotrichosis and nail dystrophy
without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs
after birth with varying degrees of severity, ranging from mild hair loss to complete
atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair,
and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails
or spoon nails (koilonychia) (summary by Lin et al., 2012).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the homeo box C13 gene (HOXC13, 142976.0001);
Prefixed ID : #614931;
Origin ID : 614931;
UMLS CUI : C3554127;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
