Disease Index

9,486 diseases
cataract-aberrant oral frenula-growth delay syndrome
MeSH: C536691
cataract-ataxia-deafness syndrome
Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
MeSH: C538283
cataract-congenital heart disease-neural tube defect syndrome
MeSH: C564271
cataract-deafness-hypogonadism syndrome
MeSH: C536626
cataract-glaucoma syndrome
Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
human disease
cataract-hypertrichosis-intellectual disability syndrome
MeSH: C537959
cataract-intellectual disability-anal atresia-urinary defects syndrome
MeSH: C537009
cataract-intellectual disability-hypogonadism syndrome
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism
MeSH: C536028
Cataract-microcornea syndrome
Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism
MeSH: C538287
cataracts, spastic paraparesis, and speech delay
human disease
catastrophic antiphospholipid syndrome
human disease
catecholamine-producing tumor
Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)
catecholaminergic polymorphic ventricular tachycardia
disorder characterized by an abnormal heart rhythm (arrhythmia)
ICD: I47.2MeSH: D000098850
Catel–Manzke syndrome
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis
MeSH: C535347
caudal appendage-deafness syndrome
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
MeSH: C537713
caudal regression syndrome
congenital disorder in humans caused by abnormal fetal development of the lower spine
ICD: Q76.4
caudal regression-sirenomelia spectrum
causalgia
human disease
MeSH: D002422
caveolinopathy
human disease
cavernous hemangiomas of face-supraumbilical midline raphe syndrome
human disease
MeSH: C538144
cavitary myiasis
Cayman type cerebellar ataxia
human disease
MeSH: C563363
CD25 deficiency
human disease
MeSH: C565232
CD30+ cutaneous T-cell lymphoma
anaplastic lymphoma of the skin which develops as a primary neoplasm expressing the CD30 antigen
MeSH: D054446
CD3gamma deficiency
Human disease
CD40 deficiency
Human disease
ICD: D80.5
CD40 ligand deficiency
Human disease
CD45 deficiency
Human disease
CD55 deficiency
medical condition
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