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Disease Browser
Parent Node:
expandBrain Diseases, Metabolic (D001928)
Parent Node:
expandCalcinosis (D002114)
Parent Node:
expandDwarfism, Pituitary (D004393)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandRetinal Degeneration (D012162)
..Starting node
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)

       Child Nodes:



 Sister Nodes: 
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandEnhanced S-Cone Syndrome (C564835)
..expandHyaloideoretinal degeneration of Wagner (C536075)
..expandJoubert syndrome 4 (C536296)
..expandLate-Onset Retinal Degeneration (C565309)
..expandLattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..expandMacKay Shek Carr syndrome (C538364)
..expandMacular Degeneration (D008268) Child28
..expandMicrophthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..expandNoble Bass Sherman syndrome (C536124)
..expandPigmented Paravenous Chorioretinal Atrophy (C566801)
..expandRetinal Cone Dystrophy 1 (C566719)
..expandRetinal Degeneration and Epilepsy (C564847)
..expandRetinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..expandRetinal Drusen (D015593) Child2
..expandRetinal Dystrophies (D058499) Child143
..expandRetinoschisis (D041441) Child1
..expandSnowflake vitreoretinal degeneration (C536677)
..expandSpastic paraplegia 15, autosomal recessive (C536642)
..expandSveinsson Chorioretinal Atrophy (C566236)
..expandVitreoretinochoroidopathy (C536352)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3747
Name:Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Definition:
Alternative IDs:
ParentIDs:MESH:D001928|MESH:D002114|MESH:D004393|MESH:D008607|MESH:D008831|MESH:D012162
TreeNumbers:C05.116.099.343.445/C565594 |C05.116.132.358/C565594 |C05.660.207.620/C565594 |C10.228.140.163/C565594 |C10.228.140.617.738.300.300/C565594 |C10.500.507.400.500/C565594 |C10.597.606.643/C565594 |C11.768.585/C565594 |C16.131.621.207.620/C565594 |C16.131.666.507.40
Synonyms:
Slim Mappings:Congenital abnormality|Endocrine system disease|Eye disease|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C565594
MeSH: C565594
OMIM: 225755;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001251Ataxia
3 HP:0002514Cerebral calcification
4 HP:0001363Craniosynostosis
5 HP:0000824Decreased response to growth hormone stimulation test
6 HP:0001298Encephalopathy
7 HP:0001256Intellectual disability, mild
8 HP:0000546Retinal degeneration
9 HP:0003510Severe short stature
10 HP:0001257Spasticity
11 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants