keratosis follicularis dwarfism cerebral atrophy

Preferred Label : keratosis follicularis dwarfism cerebral atrophy;

MeSH synonym : keratosis follicularis, dwarfism, and cerebral atrophy;

Origin ID

C536158;

UMLS CUI

C1839910;

Currated CISMeF NLP mapping
- Keratosis follicularis, dwarfism, and cerebral atrophy [OMIM Phenotype]
- Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) [SNOMED CT concept]
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Dwarfism [HPO term]
- Early death [HPO term]
- Severe congenital proportionate dwarfism [HPO term]
- absent hair, eyebrows and eyelashes [HPO term]
MeSH term(s) associated for indexing
- brain diseases [MeSH Descriptor]
- darier disease [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
ORDO relation(s)
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome [ORDO Disease]
Record concept(s)
- Keratosis follicularis dwarfism cerebral atrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keratosis follicularis, dwarfism, and cerebral atrophy [OMIM Phenotype]
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome [ORDO Disease]