Disease browser and phenotype portal

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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Arthrogryposis (D001176)
Parent Node: Fetal Growth Retardation (D005317)
Parent Node: Holoprosencephaly (D016142)
..Starting node ..Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
Child Nodes:
Sister Nodes:
..Cyclopia (C562573)
..Demyer Sequence (C567614)
..Dysgnathia complex (C537996)
..Genoa syndrome (C537684)
..Holoprosencephaly 1 (C565514)
..Holoprosencephaly 10 (C567278)
..Holoprosencephaly 2 (C563579)
..Holoprosencephaly 3 (C564181)
..Holoprosencephaly 4 (C564180)
..Holoprosencephaly 5 (C566464)
..Holoprosencephaly 6 (C565274)
..Holoprosencephaly 7 (C563660)
..Holoprosencephaly 8 (C563723)
..Holoprosencephaly 9 (C563659)
..Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
..Holoprosencephaly, recurrent infections, and monocytosis (C538328)
..Lambotte syndrome (C537549)
..Microgastria limb reduction defect (C537554)
..Nonsyndromic Holoprosencephaly (C580335)
..Pseudotrisomy 13 syndrome (C535829)
..Steinfeld Syndrome (C566655)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5251

Name:

Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence

Definition:

Alternative IDs:

ParentIDs:

MESH:D001176|MESH:D005317|MESH:D016142

TreeNumbers:

C05.550.150/C564409 |C05.651.102/C564409 |C05.660.077/C564409 |C05.660.207.410/C564409 |C10.500.034.875/C564409 |C13.703.277.370/C564409 |C16.131.077.410/C564409 |C16.131.260.380/C564409 |C16.131.621.077/C564409 |C16.131.621.207.410/C564409 |C16.131.666.034.875/C5

Synonyms:

Slim Mappings:

Reference:

MedGen: C564409
MeSH: C564409
OMIM: 306990;

Genes:

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001558	Decreased fetal movement
3	HP:0001989	Fetal akinesia sequence
4	HP:0001360	Holoprosencephaly
5	HP:0001511	Intrauterine growth retardation
6	HP:0000252	Microcephaly
7	HP:0002828	Multiple joint contractures

Disease Causing ClinVar Variants