Simpson-golabi-behmel syndrome, type 2

Preferred Label : Simpson-golabi-behmel syndrome, type 2;

Symbol : SGBS2;

CISMeF acronym : SGBS2;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the OFD1 gene (OFD1, 300170.0007);

Prefixed ID : #300209;

Details

Origin ID

300209;

UMLS CUI

C1846175;

Automatic exact mappings (from CISMeF team)
- OFD1 wt Allele [NCIt concept]
- Simpson-Golabi-Behmel syndrome type 2 [DO Concept]
Currated CISMeF NLP mapping
- Simpson-Golabi-Behmel syndrome type 2 [ORDO Disease]
- Simpson-Golabi-Behmel syndrome, type 2 [MeSH concept]
- Simpson-Golabi-Behmel syndrome, type 2 [MeSH Supplementary Concept]
DO Cross reference
- Simpson-Golabi-Behmel syndrome type 2 [DO Concept]
Genes related to phenotype
- Ofd1 centriole and centriolar satellite protein [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Anteverted nares [HPO term]
- Brisk deep tendon reflexes [HPO term]
- Broad palm [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Coarse facial features [HPO term]
- Congenital hip dislocation [HPO term]
- Deep philtrum [HPO term]
- Dolichocephaly [HPO term]
- Epicanthus [HPO term]
- Facial capillary hemangioma [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperactive deep tendon reflexes [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micropenis [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Nuchal skin folds [HPO term]
- Obesity [HPO term]
- Pneumonia [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent philtrum [HPO term]
- Radial deviation of finger [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Scaphocephaly [HPO term]
- Short finger [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short tapering fingers [HPO term]
- Short, broad nose [HPO term]
- Single transverse palmar crease [HPO term]
- Small nail [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Thickened nuchal skin fold [HPO term]
- Thin upper lip vermilion [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Simpson-Golabi-Behmel syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Simpson-Golabi-Behmel syndrome type 2 [ORDO Disease]
- Simpson-Golabi-Behmel syndrome, type 2 [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome, type 2 [MeSH concept]

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