PedAM

Pediatric Disease Annotations & Medicines


	cerebellar hypoplasia

Disease ID	1149
Disease	cerebellar hypoplasia
Definition	Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
Synonym	cerebellum hypoplasia congenital cerebellar hypoplasia congenital cerebellar hypoplasia (disorder) congenital hypoplasia of cerebellum congenital small cerebellum hypoplasia cerebellar hypoplasia cerebellum hypoplasia of cerebellum hypoplasia of the cerebellum hypoplastic cerebellum small cerebellum underdeveloped cerebellum
OMIM	OMIM:213000
UMLS	C0266470
SNOMED-CT	SNOMEDCT_US_2016_09_01:16026008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0266463 \| lissencephaly \| 18 C0025958 \| microcephaly \| 7 C0010964 \| dandy-walker malformation \| 2 C0025362 \| mental retardation \| 2 C0026847 \| spinal muscular atrophy \| 2 C0004134 \| ataxia \| 2 C0026846 \| muscular atrophy \| 2 C0014544 \| epilepsy \| 1 C0015923 \| fetal alcohol syndrome \| 1 C0085113 \| neurofibromatosis \| 1 C0020255 \| hydrocephalus \| 1 C0013421 \| dystonia \| 1 C0011847 \| diabetes \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1149
Disease	cerebellar hypoplasia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:5) HP:0001321 \| Small cerebellum HP:0000639 \| Nystagmus HP:0001252 \| Hypotonia HP:0001251 \| Ataxia HP:0001337 \| Tremor
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0001339 \| Lissencephaly \| 18 HP:0000252 \| Small head circumference \| 7 HP:0001249 \| Mental retardation \| 5 HP:0001263 \| Developmental retardation \| 3 HP:0001251 \| Ataxia \| 2 HP:0001305 \| Dandy-Walker cyst \| 2 HP:0007269 \| Spinal muscle wasting \| 2 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 2 HP:0007260 \| Type II lissencephaly \| 2 HP:0002280 \| Large cisterna magna \| 2 HP:0001270 \| Motor retardation \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0004905 \| Vitamin A deficiency \| 1 HP:0001332 \| Dystonia \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0001252 \| Hypotonia \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0002198 \| Enlarged fourth ventricle \| 1 HP:0002419 \| 'molar tooth sign' on brain imaging' \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0000253 \| Microcephaly, postnatal, progressive \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0001302 \| Cerebral pachygyria \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0012110 \| Pontine hypoplasia \| 1 HP:0009879 \| Simplified gyral pattern \| 1 HP:0001067 \| Neurofibromas \| 1

Disease ID	1149
Disease	cerebellar hypoplasia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007703	Abnormality of retinal pigmentation	MP:0001006	abnormal retinal cone cell morphology;HP:0001252	Muscular hypotonia

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000512	Abnormal electroretinogram	MP:0011250	abdominal situs ambiguus;HP:0100543	Cognitive impairment

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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