ODCs

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6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
4 signs/symptoms

Split hand-split foot malformation

Epidermolysis bullosa simplex with circinate migratory erythema


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.72)	KRT5

Citations in the biomedical literature:

Split hand-split foot malformation		Epidermolysis bullosa simplex with circinate migratory erythema
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): - EBS-migr

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 6 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Split hand-split foot malformation		Epidermolysis bullosa simplex with circinate migratory erythema
	Very frequent - Autosomal dominant inheritance - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Autosomal recessive inheritance - Hand agenesis / absence - Sensorineural deafness / hearing loss - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Cutaneous rash - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment