Microphthalmia, syndromic 9

Preferred Label : Microphthalmia, syndromic 9;

Symbol : MCOPS9;

CISMeF acronym : MCOPCB8; MCOPS9; PDAC; PMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm; Anophthalmia/microphthalmia and pulmonary hypoplasia; Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect; Spear syndrome; Matthew-wood syndrome; Pulmonary agenesis, microphthalmia, and diaphragmatic defect; PDAC; PMD;

Included titles and symbols : Microphthalmia/coloboma 8; MCOPCB8;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the mouse stimulated by retinoic acid-6 gene (STRA6, 610745.0007);

Prefixed ID : #601186;

Détails

Origin ID

601186;

UMLS CUI

C1832661;

Automatic exact mappings (from CISMeF team)
- Anophthalmia - pulmonary hypoplasia [ICD-11 More detail]
- Manic depressive illness [MedDRA LLT]
- PLP1 wt Allele [NCIt concept]
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Pelizaeus-Merzbacher disease [DO Concept]
- STRA6 wt Allele [NCIt concept]
CISMeF manual mappings
- Matthew Wood syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Anophthalmia with pulmonary hypoplasia [MeSH concept]
- Matthew-Wood syndrome [ORDO Disease]
- anophthalmia with pulmonary hypoplasia [MeSH Supplementary Concept]
- syndromic microphthalmia 9 [DO Concept]
DO Cross reference
- syndromic microphthalmia 9 [DO Concept]
False automatic mappings
- Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Progressive Metabolic Disease [NCIt concept]
Genes related to phenotype
- Stimulated by retinoic acid 6 [OMIM gene]
HPO term(s)
- Agenesis of pulmonary vessels [HPO term]
- Anophthalmia [HPO term]
- Anophthalmia, clinical [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Bilateral lung agenesis [HPO term]
- Bilateral microphthalmos [HPO term]
- Blepharophimosis [HPO term]
- Coarctation of aorta [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Diaphragmatic eventration [HPO term]
- Generalized hypotonia [HPO term]
- Horseshoe kidney [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypoplastic left atrium [HPO term]
- Hypoplastic spleen [HPO term]
- Hypoplastic, bicornuate uterus [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, profound [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Multilobulated spleen [HPO term]
- Patent ductus arteriosus [HPO term]
- Pelvic kidney [HPO term]
- Pulmonary agenesis, usually bilateral [HPO term]
- Pulmonary artery atresia [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pulmonic stenosis [HPO term]
- Renal hypoplasia [HPO term]
- Renal malrotation [HPO term]
- Respiratory insufficiency [HPO term]
- Right aortic arch with mirror image branching [HPO term]
- Short stature [HPO term]
- Single ventricle [HPO term]
- Tetralogy of Fallot [HPO term]
- Truncus arteriosus [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Colobomatous microphthalmia [ORDO Disease]
- Matthew-Wood syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anophthalmia with pulmonary hypoplasia [MeSH concept]
- Matthew Wood syndrome (disorder) [SNOMED CT concept]
- Matthew-Wood syndrome [ORDO Disease]
- anophthalmia with pulmonary hypoplasia [MeSH Supplementary Concept]
- syndromic microphthalmia 9 [DO Concept]

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