Teebi hypertelorism syndrome 1

Preferred Label : Teebi hypertelorism syndrome 1;

Symbol : TBHS1;

CISMeF acronym : TBHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachycephalofrontonasal dysplasia; Teebi hypertelorism syndrome; TBHS; Hypertelorism, teebi type; BBBG2; Opitz oculogenitolaryngeal syndrome, type II; Opitz bbb syndrome, type II; Opitz-g syndrome, type II; Opitz gbbb syndrome, type II; Chromosome 22q11.2 deletion syndrome, opitz phenotype; Hypertelorism with esophageal abnormality and hypospadias; Opitz bbbg syndrome, type II; GBBB2; OGS2; Hypertelorism-hypospadias syndrome; Opitz-frias syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sperm antigen with calponin homology and coiled-coil domains 1-like gene (SPECC1L, 614140.0004);

Prefixed ID : #145420;

Details

Origin ID

145420;

UMLS CUI

C0796179;

Automatic exact mappings (from CISMeF team)
- Opitz GBBB syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Hypertelorism Teebi type (disorder) [SNOMED CT concept]
- SPECC1L-related hypertelorism syndrome [ORDO Disease]
- Teebi syndrome [MeSH concept]
Genes related to phenotype
- Sperm antigen with calponin homology and coiled-coil domains 1-like [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Aortic root aneurysm [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Bilateral ptosis [HPO term]
- Broad and depressed nasal bridge [HPO term]
- Broad palm [HPO term]
- Congenital onset [HPO term]
- Coronal craniosynostosis [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hydrocele testis [HPO term]
- Hypertelorism [HPO term]
- Hypopigmented macule [HPO term]
- Long philtrum [HPO term]
- Micrognathia [HPO term]
- Mild antimongoloid slant [HPO term]
- Natal tooth [HPO term]
- Omphalocele [HPO term]
- Panic attack [HPO term]
- Preauricular pit [HPO term]
- Prominent forehead [HPO term]
- Pulmonary hypoplasia [HPO term]
- Sagittal craniosynostosis [HPO term]
- Shawl scrotum [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Single umbilical artery [HPO term]
- Small hand [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- SPECC1L-related hypertelorism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypertelorism Teebi type (disorder) [SNOMED CT concept]
- Opitz G/BBB Syndrome [NCIt concept]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
- SPECC1L-related hypertelorism syndrome [ORDO Disease]
- Teebi syndrome [MeSH concept]
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]

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