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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: Limb Deformities, Congenital (D017880)
Parent Node: Maxillofacial Abnormalities (D019767)
..Starting node ..Robinow syndrome, autosomal recessive (C535863)
Child Nodes:
Sister Nodes:
..Abruzzo Erickson syndrome (C535559)
..Ackerman syndrome (C538170)
..Bifid Nose, Autosomal Dominant (C567781)
..Cherubism (D002636) 2
..Dentofacial Deformities (D063169)
..Jaw Abnormalities (D007569) 158
..Maxillofacial Dysostosis (C563599)
..Maxillonasal dysplasia, Binder type (C536036)
..Oculomaxillofacial dysostosis (C537736)
..Robinow syndrome, autosomal recessive (C535863)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9886

Name:

Robinow syndrome, autosomal recessive

Definition:

Alternative IDs:

OMIM:268310

ParentIDs:

MESH:D017880|MESH:D019767

TreeNumbers:

C05.660.207.540/C535863 |C05.660.585/C535863 |C07.650.500/C535863 |C16.131.621.207.540/C535863 |C16.131.621.585/C535863 |C16.131.850.500/C535863

Synonyms:

COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY |COVESDEM SYNDROME, FORMERLY ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS, INCLUDED |ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-S

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C535863
MeSH: C535863
OMIM: 268310;

Genes: ROR2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010292	Absent uvula
3	HP:0000463	Anteverted nares
4	HP:0000463	Anteverted nares	HP:0040284
5	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
6	HP:0001853	Bifid distal phalanx of toe
7	HP:0010297	Bifid tongue	HP:0040284
8	HP:0001156	Brachydactyly
9	HP:0011304	Broad thumb
10	HP:0001837	Broad toe
11	HP:0030084	Clinodactyly
12	HP:0000060	Clitoral hypoplasia
13	HP:0000028	Cryptorchidism
14	HP:0000270	Delayed cranial suture closure
15	HP:0000696	Delayed eruption of permanent teeth
16	HP:0002750	Delayed skeletal maturation
17	HP:0000678	Dental crowding
18	HP:0005280	Depressed nasal bridge	HP:0040284
19	HP:0000494	Downslanted palpebral fissures
20	HP:0009883	Duplication of the distal phalanx of hand
21	HP:0012368	Flat face
22	HP:0002007	Frontal bossing
23	HP:0000212	Gingival overgrowth
24	HP:0001263	Global developmental delay
25	HP:0000126	Hydronephrosis
26	HP:0000316	Hypertelorism
27	HP:0000059	Hypoplastic labia majora
28	HP:0004590	Hypoplastic sacrum
29	HP:0000023	Inguinal hernia
30	HP:0001249	Intellectual disability
31	HP:0000527	Long eyelashes	HP:0040284
32	HP:0000637	Long palpebral fissure
33	HP:0000343	Long philtrum
34	HP:0000369	Low-set ears	HP:0040284
35	HP:0000256	Macrocephaly
36	HP:0000158	Macroglossia
37	HP:0000272	Malar flattening
38	HP:0003027	Mesomelia
39	HP:0000347	Micrognathia
40	HP:0000054	Micropenis
41	HP:0011800	Midface retrusion
42	HP:0000921	Missing ribs
43	HP:0002164	Nail dysplasia	HP:0040284
44	HP:0001052	Nevus flammeus
45	HP:0000767	Pectus excavatum
46	HP:0000358	Posteriorly rotated ears
47	HP:0000520	Proptosis
48	HP:0009466	Radial deviation of finger
49	HP:0000075	Renal duplication
50	HP:0000278	Retrognathia	HP:0040284
51	HP:0000902	Rib fusion
52	HP:0001705	Right ventricular outlet tract obstruction
53	HP:0002650	Scoliosis
54	HP:0004220	Short middle phalanx of the 5th finger
55	HP:0000470	Short neck	HP:0040284
56	HP:0003196	Short nose	HP:0040284
57	HP:0004279	Short palm
58	HP:0004322	Short stature	HP:0040284
59	HP:0200055	Small hand	HP:0040284
60	HP:0000219	Thin upper lip vermilion	HP:0040284
61	HP:0000219	Thin upper lip vermilion
62	HP:0008467	Thoracic hemivertebrae
63	HP:0002944	Thoracolumbar scoliosis
64	HP:0000207	Triangular mouth
65	HP:0001537	Umbilical hernia
66	HP:0002948	Vertebral fusion
67	HP:0000260	Wide anterior fontanel
68	HP:0000431	Wide nasal bridge

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_004560.3(ROR2):c.2805C>G (p.Asp935Glu)	4920	ROR2	Uncertain significance	41277835	RCV000147390; RCV000180606;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507; MedGen:CN221809	9	94485971	94485971	NM_004560.3:c.2805C>G	NP_004551.2:p.Asp935Glu	NC_000009.11:g.94485971G>C	-	CN221809 not provided; C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.2160G>A (p.Trp720Ter)	4920	ROR2	Pathogenic	121909085	RCV000007732;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94486616	94486616	NM_004560.3:c.2160G>A	NP_004551.2:p.Trp720Ter	NC_000009.11:g.94486616C>T	OMIM Allelic Variant:602337.0006	C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.1959G>A (p.Leu653=)	4920	ROR2	Uncertain significance	144549032	RCV000147383;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94486817	94486817	NM_004560.3:c.1959G>A	NP_004551.2:p.Leu653=	NC_000009.11:g.94486817C>T	-	C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.1937_1943delACAAGCT (p.Tyr646Cysfs)	4920	ROR2	Pathogenic	863223291	RCV000007737;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94486833	94486839	NM_004560.3:c.1937_1943delACAAGCT	NP_004551.2:p.Tyr646Cysfs	NC_000009.11:g.94486833_94486839delAGCTTGT	OMIM Allelic Variant:602337.0010	C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.1504C>T (p.Gln502Ter)	4920	ROR2	Pathogenic	121909083	RCV000007730;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94487272	94487272	NM_004560.3:c.1504C>T	NP_004551.2:p.Gln502Ter	NC_000009.11:g.94487272G>A	OMIM Allelic Variant:602337.0004	C1849334 268310 Robinow syndrome, autosomal recessive
NG_008089.1:g.218534_227384del8851	4920	ROR2	Pathogenic	-1	RCV000007739;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94490061	94498911	-	-		OMIM Allelic Variant:602337.0012	C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.986G>A (p.Ser329Asn)	4920	ROR2	Uncertain significance	371221714	RCV000147395;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94493389	94493389	NM_004560.3:c.986G>A	NP_004551.2:p.Ser329Asn	NC_000009.11:g.94493389C>T	-	C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.613C>T (p.Arg205Ter)	4920	ROR2	Pathogenic	121909086	RCV000007733;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94499682	94499682	NM_004560.3:c.613C>T	NP_004551.2:p.Arg205Ter	NC_000009.11:g.94499682G>A	OMIM Allelic Variant:602337.0007	C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.550C>T (p.Arg184Cys)	4920	ROR2	Pathogenic	121909084	RCV000007731;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94499745	94499745	NM_004560.3:c.550C>T	NP_004551.2:p.Arg184Cys	NC_000009.11:g.94499745G>A	OMIM Allelic Variant:602337.0005	C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.355C>T (p.Arg119Ter)	4920	ROR2	Pathogenic	121909087	RCV000007738;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507	9	94519662	94519662	NM_004560.3:c.355C>T	NP_004551.2:p.Arg119Ter	NC_000009.11:g.94519662G>A	OMIM Allelic Variant:602337.0011	C1849334 268310 Robinow syndrome, autosomal recessive
NM_004560.3(ROR2):c.75G>A (p.Leu25=)	4920	ROR2	Benign;Uncertain significance	148237260	RCV000147393; RCV000173351;	N	MedGen:C1849334,OMIM:268310,ORPHA:1507; MedGen:CN169374	9	94712171	94712171	NM_004560.3:c.75G>A	NP_004551.2:p.Leu25=	NC_000009.11:g.94712171C>T	-	CN169374 not specified; C1849334 268310 Robinow syndrome, autosomal recessive