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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: Abnormalities, Multiple (D000015)
Parent Node: Alopecia (D000505)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Growth Disorders (D006130)
Parent Node: Neurocutaneous Syndromes (D020752)
..Starting node ..Gomez Lopez Hernandez syndrome (C537285)
Child Nodes:
Sister Nodes:
..Angioma hereditary neurocutaneous (C536364)
..Ataxia Telangiectasia (D001260) 6
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Elejalde Disease (C536203)
..Encephalocraniocutaneous lipomatosis (C535736)
..Gomez Lopez Hernandez syndrome (C537285)
..Johnson neuroectodermal syndrome (C535882)
..Neurocutaneous melanosis (C537387)
..Neurofibromatoses (D017253) 13
..Nevus, Sebaceous of Jadassohn (D054000) 1
..PHACE association (C537892)
..Phacomatosis pigmentovascularis (C537894)
..Sturge-Weber Syndrome (D013341) 1
..Tuberous Sclerosis (D014402) 4
..von Hippel-Lindau Disease (D006623)
..Wyburn Mason's syndrome (C536752)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4757

Name:

Gomez Lopez Hernandez syndrome

Definition:

Alternative IDs:

OMIM:601853

ParentIDs:

MESH:D000015|MESH:D000505|MESH:D006130|MESH:D019465|MESH:D020752

TreeNumbers:

C05.660.207/C537285 |C10.562/C537285 |C16.131.077.350.712/C537285 |C16.131.077/C537285 |C16.131.621.207/C537285 |C16.131.831.350.712/C537285 |C16.320.850.250.712/C537285 |C17.800.329.937.122/C537285 |C17.800.804.350.712/C537285 |C17.800.827.250.712/C537285 |C23.30

Synonyms:

Cerebellotrigeminal dermal dysplasia |Cerebellotrigeminal-dermal dysplasia |CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA |GLH Syndrome |Gomez-Lopez-Hernandez Syndrome

Slim Mappings:

Reference:

MedGen: C537285
MeSH: C537285
OMIM: 601853;

Genes:

Phenotypes

1	HP:0002335	Agenesis of cerebellar vermis
2	HP:0001596	Alopecia
3	HP:0000463	Anteverted nares
4	HP:0001251	Ataxia
5	HP:0007302	Bipolar affective disorder
6	HP:0000248	Brachycephaly
7	HP:0001320	Cerebellar vermis hypoplasia
8	HP:0100543	Cognitive impairment
9	HP:0001363	Craniosynostosis
10	HP:0000824	Decreased response to growth hormone stimulation test
11	HP:0006899	Fusion of the cerebellar hemispheres
12	HP:0001290	Generalized hypotonia
13	HP:0000218	High palate
14	HP:0000752	Hyperactivity
15	HP:0001347	Hyperreflexia
16	HP:0000316	Hypertelorism
17	HP:0001276	Hypertonia
18	HP:0000369	Low-set ears
19	HP:0000272	Malar flattening
20	HP:0011800	Midface retrusion
21	HP:0007759	Opacification of the corneal stroma
22	HP:0000358	Posteriorly rotated ears
23	HP:0001250	Seizure
24	HP:0100716	Self-injurious behavior
25	HP:0003196	Short nose
26	HP:0004322	Short stature
27	HP:0002678	Skull asymmetry
28	HP:0000319	Smooth philtrum
29	HP:0003745	Sporadic
30	HP:0000486	Strabismus
31	HP:0000233	Thin vermilion border
32	HP:0000262	Turricephaly
33	HP:0000260	Wide anterior fontanel
34	HP:0002645	Wormian bones

Disease Causing ClinVar Variants