Microphthalmia, syndromic 8

Preferred Label : Microphthalmia, syndromic 8;

Symbol : MCOPS8;

CISMeF acronym : MCOPS8; MMEP;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism; MMEP;

Inheritance : ? Autosomal dominant;

Prefixed ID : %601349;

Détails

Origin ID

601349;

UMLS CUI

C1832440;

Automatic exact mappings (from CISMeF team)
- 2-[2-(methacryloyloxy)ethoxycarbonyl]benzoic acid [Substance BNPC]
- Microcephaly, microphthalmia, ectrodactyly of lower limbs, prognathism syndrome [ICD-11 More detail]
- mono(2-methacryloyloxy)ethyl phthalate [MeSH concept]
- mono(2-methacryloyloxy)ethyl phthalate [MeSH Supplementary Concept]
- syndromic microphthalmia 8 [DO Concept]
Currated CISMeF NLP mapping
- MMEP syndrome [ORDO Disease]
- Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) [SNOMED CT concept]
- Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism [MeSH concept]
- microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism [MeSH Supplementary Concept]
DO Cross reference
- syndromic microphthalmia 8 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Intellectual disability [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Oral cleft [HPO term]
- Premature skin wrinkling [HPO term]
- Short palpebral fissure [HPO term]
- Split foot [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
ORDO concept(s)
- MMEP syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MMEP syndrome [ORDO Disease]
- Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) [SNOMED CT concept]
- Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism [MeSH concept]
- microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism [MeSH Supplementary Concept]
- syndromic microphthalmia 8 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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