CHIME syndrome
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy
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CHIME syndrome
Summary
CHIME syndrome is a head and neck disease[1]. It draws 114 Wikipedia views per month (head_and_neck_disease category, ranking #51 of 92).[2]
Key Facts
- CHIME syndrome's instance of is recorded as head and neck disease[3].
- CHIME syndrome's instance of is recorded as developmental defect during embryogenesis[4].
- CHIME syndrome's instance of is recorded as rare disease[5].
- CHIME syndrome's instance of is recorded as class of disease[6].
- CHIME syndrome is a type of congenital disorder of glycosylation with deafness as a major feature[7].
- CHIME syndrome is a type of congenital disorder of glycosylation with skin involvement[8].
- CHIME syndrome is a type of congenital disorder of glycosylation with epilepsy as a major feature[9].
- CHIME syndrome is a type of non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature[10].
- CHIME syndrome is a type of congenital disorder of glycosylation with cardiac malformation as a major feature[11].
- CHIME syndrome is a type of inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation[12].
- CHIME syndrome is a type of rare eye disease due to a differentiation anomaly[13].
- CHIME syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[14].
- CHIME syndrome is a type of syndromic dyslipidemia[15].
- CHIME syndrome is a type of syndromic developmental defect of the eye[16].
- CHIME syndrome is a type of syndrome[17].
- CHIME syndrome is a type of autosomal recessive disease[18].
- CHIME syndrome's genetic association is recorded as PIGL[19].
- CHIME syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3474[20].
- CHIME syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0112152[21].
- CHIME syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0112152[22].
Why It Matters
CHIME syndrome draws 114 Wikipedia views per month (head_and_neck_disease category, ranking #51 of 92).[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[23] It is known by 19 alternative names across languages and contexts.[24]