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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Lissencephaly (D054082)
..Starting node ..Lissencephaly Type III and Bone Dysplasia (C563383)
Child Nodes:
Sister Nodes:
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Cobblestone Lissencephaly (D054222) 8
..Fryns-Aftimos Syndrome (C565258)
..Kuzniecky syndrome (C538091)
..Lissencephaly 3 (C566908)
..Lissencephaly Type III and Bone Dysplasia (C563383)
..Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia (C565781)
..Massa Casaer Ceulemans syndrome (C536031)
..Norman Roberts lissencephaly syndrome (C537848)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Pachygyria, frontotemporal (C538092)
..Partial lissencephaly (C536298)
..Winter Harding Hyde syndrome (C536712)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6491

Name:

Lissencephaly Type III and Bone Dysplasia

Definition:

Alternative IDs:

ParentIDs:

MESH:D001848|MESH:D054082

TreeNumbers:

C05.116.099/C563383 |C10.500.507.450.499/C563383 |C16.131.666.507.450.499/C563383

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C563383
MeSH: C563383
OMIM: 601160;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0002335	Agenesis of cerebellar vermis
4	HP:0001274	Agenesis of corpus callosum
5	HP:0002304	Akinesia
6	HP:0002804	Arthrogryposis multiplex congenita
7	HP:0007009	Central nervous system degeneration
8	HP:0001989	Fetal akinesia sequence
9	HP:0002365	Hypoplasia of the brainstem
10	HP:0045028	Microlissencephaly
11	HP:0002529	Neuronal loss in central nervous system
12	HP:0001561	Polyhydramnios
13	HP:0002089	Pulmonary hypoplasia

Disease Causing ClinVar Variants