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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Congenital Microtia (D065817)
Parent Node: Growth Disorders (D006130)
Parent Node: Micrognathism (D008844)
..Starting node ..Meier-Gorlin syndrome (C538012)
Child Nodes:
Sister Nodes:
..Baetz-Greenwalt syndrome (C537795)
..Bird headed dwarfism Montreal type (C535448)
..Cerebral Cavernous Malformations 2 (C566394)
..Cerebral Cavernous Malformations 3 (C566393)
..Cerebrocostomandibular Syndrome (C562538)
..Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia (C565729)
..Coffin-Siris syndrome (C536436)
..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..Crumpled helices and small mouth (C536217)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Genee-Wiedemann syndrome (C537680)
..Genito palato cardiac syndrome (C537683)
..Ho Kaufman Mcalister syndrome (C538325)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Meier-Gorlin syndrome (C538012)
..Milner Khallouf Gibson syndrome (C537473)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Schweitzer Kemink Graham syndrome (C536511)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6907

Name:

Meier-Gorlin syndrome

Definition:

Alternative IDs:

OMIM:224690|OMIM:613800|OMIM:613803|OMIM:613804|OMIM:613805

ParentIDs:

MESH:D006130|MESH:D008844|MESH:D065817

TreeNumbers:

C05.500.460.457/C538012 |C05.660.207.540.460.457/C538012 |C07.320.440.457/C538012 |C07.650.500.460.457/C538012 |C09.218.235/C538012 |C16.131.287/C538012 |C16.131.621.207.540.460.457/C538012 |C16.131.850.500.460.457/C538012 |C23.550.393/C538012

Synonyms:

Slim Mappings:

Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C538012
MeSH: C538012
OMIM: 224690;

Genes: CDC6; CDT1; ORC1; ORC4; ORC6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002644	Abnormality of pelvic girdle bone morphology
3	HP:0006591	Absent glenoid fossa
4	HP:0006628	Absent sternal ossification
5	HP:0006498	Aplasia/Hypoplasia of the patella
6	HP:0000413	Atresia of the external auditory canal
7	HP:0003561	Birth length less than 3rd percentile
8	HP:0000581	Blepharophimosis
9	HP:0003187	Breast hypoplasia
10	HP:0001623	Breech presentation
11	HP:0012385	Camptodactyly
12	HP:0000175	Cleft palate
13	HP:0004209	Clinodactyly of the 5th finger
14	HP:0008665	Clitoral hypertrophy
15	HP:0000028	Cryptorchidism
16	HP:0010554	Cutaneous finger syndactyly
17	HP:0002750	Delayed skeletal maturation
18	HP:0003042	Elbow dislocation
19	HP:0001508	Failure to thrive
20	HP:0008872	Feeding difficulties in infancy
21	HP:0000911	Flat glenoid fossa
22	HP:0002007	Frontal bossing
23	HP:0002020	Gastroesophageal reflux
24	HP:0002857	Genu valgum
25	HP:0002970	Genu varum
26	HP:0000365	Hearing impairment
27	HP:0002937	Hemivertebrae
28	HP:0001425	Heterogeneous
29	HP:0000218	High palate
30	HP:0001795	Hyperconvex nail
31	HP:0000327	Hypoplasia of the maxilla
32	HP:0000059	Hypoplastic labia majora
33	HP:0000064	Hypoplastic labia minora
34	HP:0000376	Incomplete partition of the cochlea type II
35	HP:0001249	Intellectual disability
36	HP:0001511	Intrauterine growth retardation
37	HP:0009473	Joint contracture of the hand
38	HP:0001388	Joint laxity
39	HP:0000895	Lateral clavicle hook
40	HP:0000527	Long eyelashes
41	HP:0000369	Low-set ears
42	HP:0000252	Microcephaly
43	HP:0000691	Microdontia
44	HP:0000347	Micrognathia
45	HP:0000054	Micropenis
46	HP:0008551	Microtia
47	HP:0000160	Narrow mouth
48	HP:0000768	Pectus carinatum
49	HP:0002098	Respiratory distress
50	HP:0000049	Shawl scrotum
51	HP:0004279	Short palm
52	HP:0012745	Short palpebral fissure
53	HP:0000773	Short ribs
54	HP:0003100	Slender long bone
55	HP:0000237	Small anterior fontanelle
56	HP:0001518	Small for gestational age
57	HP:0200055	Small hand
58	HP:0000486	Strabismus
59	HP:0001762	Talipes equinovarus
60	HP:0000179	Thick lower lip vermilion
61	HP:0000883	Thin ribs
62	HP:0000963	Thin skin

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004153.3(ORC1):c.2159G>A (p.Arg720Gln)	4998	ORC1	Pathogenic	387906828	RCV000023157;	N	MedGen:CN030358,OMIM:224690	1	52841246	52841246	NM_004153.3:c.2159G>A	NP_004144.2:p.Arg720Gln	NC_000001.10:g.52841246C>T	OMIM Allelic Variant:601902.0004	CN030358 224690 Meier-Gorlin syndrome 1
NM_004153.3(ORC1):c.1996C>T (p.Arg666Trp)	4998	ORC1	Pathogenic	201253919	RCV000023160;	N	MedGen:CN030358,OMIM:224690	1	52849109	52849109	NM_004153.3:c.1996C>T	NP_004144.2:p.Arg666Trp	NC_000001.10:g.52849109G>A	OMIM Allelic Variant:601902.0007	CN030358 224690 Meier-Gorlin syndrome 1
NM_004153.3(ORC1):c.380A>G (p.Glu127Gly)	4998	ORC1	Pathogenic	387906826	RCV000023154;	N	MedGen:CN030358,OMIM:224690	1	52863379	52863379	NM_004153.3:c.380A>G	NP_004144.2:p.Glu127Gly	NC_000001.10:g.52863379T>C	OMIM Allelic Variant:601902.0001	CN030358 224690 Meier-Gorlin syndrome 1
NM_004153.3(ORC1):c.314G>A (p.Arg105Gln)	4998	ORC1	Pathogenic	143141689	RCV000023156;	N	MedGen:CN030358,OMIM:224690	1	52863445	52863445	NM_004153.3:c.314G>A	NP_004144.2:p.Arg105Gln	NC_000001.10:g.52863445C>T	OMIM Allelic Variant:601902.0003	CN030358 224690 Meier-Gorlin syndrome 1
NM_004153.3(ORC1):c.266T>C (p.Phe89Ser)	4998	ORC1	Pathogenic	387906827	RCV000023155;	N	MedGen:CN030358,OMIM:224690	1	52863493	52863493	NM_004153.3:c.266T>C	NP_004144.2:p.Phe89Ser	NC_000001.10:g.52863493A>G	OMIM Allelic Variant:601902.0002	CN030358 224690 Meier-Gorlin syndrome 1