loading...| Preferred Name |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B |
| Synonyms |
HI |
| ID |
http://purl.bioontology.org/ontology/OMIM/242500 |
| altLabel |
HI 'HARLEQUIN FETUS' ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE HARLEQUIN ICHTHYOSIS ARCI4B |
| cui |
C0239849 C0598226 |
| Gene Locus |
2q34 |
| Gene Symbol |
ARCI4B ABCA12 LI2 ICR2B ARCI4A |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU019358 http://purl.bioontology.org/ontology/OMIM/MTHU037598 http://purl.bioontology.org/ontology/OMIM/MTHU037586 http://purl.bioontology.org/ontology/OMIM/MTHU037588 http://purl.bioontology.org/ontology/OMIM/MTHU037591 http://purl.bioontology.org/ontology/OMIM/MTHU037595 http://purl.bioontology.org/ontology/OMIM/MTHU037593 http://purl.bioontology.org/ontology/OMIM/MTHU037596 http://purl.bioontology.org/ontology/OMIM/MTHU037565 http://purl.bioontology.org/ontology/OMIM/MTHU037589 http://purl.bioontology.org/ontology/OMIM/MTHU037587 http://purl.bioontology.org/ontology/OMIM/MTHU002595 http://purl.bioontology.org/ontology/OMIM/MTHU037592 http://purl.bioontology.org/ontology/OMIM/MTHU037597 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
242500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B |
| Scope Statement |
Patients are prone to impaired thermoregulation [MISCELLANEOUS] Usually fatal within the first few weeks of life [MISCELLANEOUS] Surviving infants develop severe nonbullous ichthyosiform erythroderma [MISCELLANEOUS] Patients are susceptible to sepsis and dehydration [MISCELLANEOUS] Caused by mutation in the ATP-binding cassette, subfamily A, member 12 gene (ABCA12, 607800.0006) [MOLECULAR BASIS] |
| tui |
T047 |