Hypotrichosis-lymphedema-telangiectasia syndrome

Preferred Label : Hypotrichosis-lymphedema-telangiectasia syndrome;

Symbol : HLTS;

CISMeF acronym : HLTS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SRY-box 18 gene (SOX18, 601618.0001);

Prefixed ID : #607823;

Details

Origin ID

607823;

UMLS CUI

C1843004;

Automatic exact mappings (from CISMeF team)
- MedDRA High Level Term [NCIt concept]
- SOX18 wt Allele [NCIt concept]
- hypotrichosis-lymphedema-telangiectasia syndrome [DO Concept]
Currated CISMeF NLP mapping
- Hypotrichosis-Lymphedema-Telangiectasia syndrome [MeSH concept]
- Hypotrichosis-Lymphedema-Telangiectasia syndrome [MeSH Supplementary Concept]
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [ORDO Disease]
- hypotrichosis, lymphedema and telangiectasia syndrome [Disease (Nov.)]
DO Cross reference
- hypotrichosis-lymphedema-telangiectasia syndrome [DO Concept]
Genes related to phenotype
- Sry-box 18 [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
- Absent eyebrow [HPO term]
- Absent eyebrows and eyelashes [HPO term]
- Absent eyelashes [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hydrocele testis [HPO term]
- Hypotrichosis [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Palmar telangiectasia [HPO term]
- Palpebral edema [HPO term]
- Predominantly lower limb lymphedema [HPO term]
- Sparse hair [HPO term]
- Telangiectases of palms and soles [HPO term]
- Thin skin [HPO term]
- Toenail dysplasia [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
ORDO concept(s)
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypotrichosis-Lymphedema-Telangiectasia syndrome [MeSH Supplementary Concept]
- Hypotrichosis-Lymphedema-Telangiectasia syndrome [MeSH concept]
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [ORDO Disease]
- hypotrichosis, lymphedema and telangiectasia syndrome [Disease (Nov.)]

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