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encyclopedia of Rare Disease Annotation for Precision Medicine

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	oculo-dento-digital dysplasia

Disease ID	1336
Disease	oculo-dento-digital dysplasia
Definition	Oculo-dento-digital dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). There also have been a few instances in which it is thought to have been inherited as an autosomal recessive trait. Major symptoms of cculo-dento-digital dysplasia are webbing of the fourth and fifth fingers, an abnormally small transparent part of the eye (microcornea), a slender nose with narrow nostrils, underdevelopment of the outer flaring wall of each nostril (alae), defective enamel and dry hair that grows slowly. - NORD Reference: NORD
Synonym	curtius syndrome curtius' syndrome i ectodermal dysplasia-ocular malformation syndrome ectodermal dysplasia-ocular malformation syndrome (disorder) oculo dento digital syndrome oculo-dento-digital syndrome oculo-dento-osseous dysplasia oculodentodigital dysplasia oculodentodigital dysplasia syndrome oculodentodigital syndrome oculodentodigital syndrome (disorder) oculodentoosseous dysplasia odd syndrome odod osseous-oculo-dental dysplasia syndrome oculodentodigital
Orphanet	ORPHANET:2710
OMIM	OMIM:164200
DOID	DOID:0060291
UMLS	C0812437
SNOMED-CT	SNOMEDCT_US_2016_09_01:31291009;SNOMEDCT_US_2016_09_01:38215007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0008924 \| cleft lip \| 1 C0030486 \| paraplegia \| 1 C0017601 \| glaucoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2697 \| GJA1 \| CLINVAR;CTD_human;GHR;UNIPROT;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:29) 265 \| AMELX \| 1.743 \| DISEASES 29117 \| BRD7 \| 2.724 \| DISEASES 2066 \| ERBB4 \| 1.105 \| DISEASES 2173 \| FABP7 \| 2.226 \| DISEASES 2258 \| FGF13 \| 1.042 \| DISEASES 2296 \| FOXC1 \| 1.702 \| DISEASES 2701 \| GJA4 \| 3.071 \| DISEASES 2705 \| GJB1 \| 2.957 \| DISEASES 2706 \| GJB2 \| 3.623 \| DISEASES 2707 \| GJB3 \| 2.982 \| DISEASES 127534 \| GJB4 \| 4.232 \| DISEASES 10052 \| GJC1 \| 3.814 \| DISEASES 57165 \| GJC2 \| 3.268 \| DISEASES 57120 \| GOPC \| 2.909 \| DISEASES 3066 \| HDAC2 \| 1.255 \| DISEASES 23493 \| HEY2 \| 2.107 \| DISEASES 3664 \| IRF6 \| 1.123 \| DISEASES 3713 \| IVL \| 2.08 \| DISEASES 3841 \| KPNA5 \| 3.37 \| DISEASES 4014 \| LOR \| 3.344 \| DISEASES 4487 \| MSX1 \| 1.774 \| DISEASES 54820 \| NDE1 \| 2.492 \| DISEASES 5570 \| PKIB \| 3.608 \| DISEASES 6098 \| ROS1 \| 1.421 \| DISEASES 51389 \| RWDD1 \| 4.683 \| DISEASES 9126 \| SMC3 \| 2.335 \| DISEASES 7020 \| TFAP2A \| 1.856 \| DISEASES 117581 \| TWIST2 \| 2.186 \| DISEASES 134430 \| WDR36 \| 2.4 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1336
Disease	oculo-dento-digital dysplasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0007020 \| Progressive spastic paraplegia \| 1 HP:0010550 \| Paraplegia \| 1 HP:0001159 \| Webbed fingers or toes \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0002514 \| Intracranial calcifications \| 1 HP:0000501 \| Glaucoma \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0000972 \| Thick palms and soles \| 1 HP:0001627 \| Congenital heart defects \| 1

Disease ID	1336
Disease	oculo-dento-digital dysplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C2012152 \| juvenile open-angle glaucoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0752303 \| urological manifestations \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:13)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893961	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121446897	A	C
rs104893961	15879313	2697	GJA1	umls:C0812437	BeFree	Cx43 proteins containing ODDD mutations found in the N-terminus (Y17S), first transmembrane domain (G21R, A40V), second transmembrane domain (L90V), and cytoplasmic loop (I130T, K134E) do form gap junction plaques but show compromised channel function.	0.573843535	2005	GJA1	6	121446897	A	C
rs104893962	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121446899	T	C
rs104893963	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121446908	G	A
rs104893963	15879313	2697	GJA1	umls:C0812437	BeFree	Cx43 proteins containing ODDD mutations found in the N-terminus (Y17S), first transmembrane domain (G21R, A40V), second transmembrane domain (L90V), and cytoplasmic loop (I130T, K134E) do form gap junction plaques but show compromised channel function.	0.573843535	2005	GJA1	6	121446908	G	A
rs104893964	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121446912	G	A
rs104893966	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121447428	A	C
rs121912969	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121446879	T	C
rs267606845	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121447073	C	A
rs28931601	15108203	2697	GJA1	umls:C0812437	UNIPROT	Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.	0.573843535	2004	GJA1	6	121447133	G	A
rs28931601	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121447133	G	A
rs387906616	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121446878	C	T
rs397518464	NA	2697	GJA1	umls:C0812437	CLINVAR	NA	0.573843535	NA	GJA1	6	121447464	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1336
Disease	oculo-dento-digital dysplasia
Case	(Waiting for update.)

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