Ameloonychohypohidrotic syndrome

Preferred Label : Ameloonychohypohidrotic syndrome;

Type : Phenotype or locus, molecular basis unknown;

Description : Witkop et al. (1975) described a kindred segregating for a syndrome comprising hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis. Witkop and Sauk (1976) observed a second kindred. The affected persons included father-son pairs. No further cases have been reported (Witkop, 1982). *FIELD* RF 1. Witkop, C. J., Jr.: Personal Communication. Minneapolis, Minn. 1982. 2. Witkop, C. J., Jr.; Brearley, L. J.; Gentry, W. C., Jr.: Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait: a review of ectodermal dysplasia syndromes. Oral Surg. 39: 71-86, 1975. 3. Witkop, C. J., Jr.; Sauk, J. J., Jr.: Heritable defects of enamel.In: Stewart, R. E.; Prescott, G. H.: Oral Facial Genetics. St. Louis: C. V. Mosby (pub.) 1976. Pp. 194-197. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : %104570;

Details

Origin ID

104570;

UMLS CUI

C1863006;

Automatic exact mappings (from CISMeF team)
- Amelo-onycho-hypohidrotic syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Amelo-onycho-hypohidrotic syndrome [ORDO Disease]
- Ameloonychohypohidrotic syndrome [MeSH concept]
- Ameloonychohypohidrotic syndrome (disorder) [SNOMED CT concept]
- ameloonychohypohidrotic syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dry skin [HPO term]
- Hypocalcification of dental enamel [HPO term]
- Hypohidrosis [HPO term]
- Marked delay in eruption of permanent teeth [HPO term]
- Onycholysis [HPO term]
- Seborrheic dermatitis [HPO term]
- Yellow-brown discoloration of the teeth [HPO term]
Not associated HPO term(s)
- Abnormal hair morphology [HPO term]
ORDO concept(s)
- Amelo-onycho-hypohidrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amelo-onycho-hypohidrotic syndrome [ORDO Disease]
- Ameloonychohypohidrotic syndrome [MeSH concept]
- Ameloonychohypohidrotic syndrome (disorder) [SNOMED CT concept]
- ameloonychohypohidrotic syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients