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	treacher collins syndrome 1

Disease ID	1141
Disease	treacher collins syndrome 1
Definition	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
Synonym	(mandibulofacial dysostosis) or (franceschetti syndrome) (mandibulofacial dysostosis) or (franceschetti syndrome) (disorder) berry syndrome collins syndrome treacher collins syndrome treachers collins syndrome, treacher dysostoses, mandibulofacial dysostosis, mandibulofacial franceschetti syndrome franceschetti-zwahlen-klein syndrome mandibulofacial dysostoses mandibulofacial dysostosis mandibulofacial dysostosis (mfd1) mandibulofacial dysostosis [disease/finding] mfd1 syndrome treacher collin syndrome treacher collins syndrome, treacher collins tcof tcs tcs1 treacher - collins syndrome treacher collin syndrome treacher collins syndrome treacher collins syndrome (disorder) treacher collins' syndrome treacher collins-franceschetti syndrome treacher-collins syndrome
Orphanet	ORPHANET:861 ORPHANET:155899
OMIM	OMIM:154500 OMIM:187270
DOID	DOID:2908
ICD10	ICD10CM:Q75.4
UMLS	C0242387
MeSH	D008342
SNOMED-CT	SNOMEDCT_US_2016_09_01:82203000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0025958 \| microcephaly \| 8 C0037315 \| sleep apnoea \| 2 C0520679 \| obstructive sleep apnoea \| 2 C0037315 \| sleep apnea \| 1 C0520679 \| obstructive sleep apnoea syndrome \| 1 C0014850 \| esophageal atresia \| 1 C0520679 \| obstructive sleep apnea \| 1 C0035305 \| retinal detachment \| 1 C0037315 \| sleep apnoea syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 7015 \| TERT \| OMIM 6949 \| TCOF1 \| CTD_human;GHR;ORPHANET;UNIPROT 9533 \| POLR1C \| CTD_human;ORPHANET;GHR 51082 \| POLR1D \| CTD_human;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:43) 146 \| ADRA1D \| 2.208 \| DISEASES 257 \| ALX3 \| 3.648 \| DISEASES 309 \| ANXA6 \| 3.006 \| DISEASES 815 \| CAMK2A \| 2.9 \| DISEASES 900 \| CCNG1 \| 2.109 \| DISEASES 64072 \| CDH23 \| 1.912 \| DISEASES 55636 \| CHD7 \| 2.245 \| DISEASES 7401 \| CLRN1 \| 2.699 \| DISEASES 7555 \| CNBP \| 1.264 \| DISEASES 1301 \| COL11A1 \| 1.617 \| DISEASES 1285 \| COL4A3 \| 1.395 \| DISEASES 1297 \| COL9A1 \| 2.394 \| DISEASES 1908 \| EDN3 \| 1.176 \| DISEASES 9343 \| EFTUD2 \| 6.537 \| DISEASES 2246 \| FGF1 \| 2.459 \| DISEASES 27022 \| FOXD3 \| 1.801 \| DISEASES 3161 \| HMMR \| 1.639 \| DISEASES 3295 \| HSD17B4 \| 2.027 \| DISEASES 83737 \| ITCH \| 2.332 \| DISEASES 84541 \| KBTBD8 \| 4.566 \| DISEASES 4487 \| MSX1 \| 1.506 \| DISEASES 4602 \| MYB \| 1.051 \| DISEASES 4693 \| NDP \| 2.135 \| DISEASES 579 \| NKX3-2 \| 3.463 \| DISEASES 9221 \| NOLC1 \| 5.327 \| DISEASES 10528 \| NOP56 \| 3.674 \| DISEASES 8481 \| OFD1 \| 2.171 \| DISEASES 65217 \| PCDH15 \| 2.015 \| DISEASES 5332 \| PLCB4 \| 4.738 \| DISEASES 11201 \| POLI \| 3.068 \| DISEASES 11128 \| POLR3A \| 2.895 \| DISEASES 90780 \| PYGO2 \| 3.693 \| DISEASES 6223 \| RPS19 \| 2.286 \| DISEASES 6231 \| RPS26 \| 2.549 \| DISEASES 6234 \| RPS28 \| 3.172 \| DISEASES 6628 \| SNRPB \| 1.584 \| DISEASES 6663 \| SOX10 \| 1.099 \| DISEASES 6672 \| SP100 \| 1.567 \| DISEASES 6949 \| TCOF1 \| 7.191 \| DISEASES 7020 \| TFAP2A \| 1.588 \| DISEASES 90121 \| TSR2 \| 3.405 \| DISEASES 64856 \| VWA1 \| 4.208 \| DISEASES 23160 \| WDR43 \| 3.828 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1141
Disease	treacher collins syndrome 1
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0005321 \| Mandibulofacial dysostosis \| 13 HP:0000252 \| Small head circumference \| 8 HP:0000347 \| Hypoplasia of mandible \| 4 HP:0002104 \| Absence of spontaneous respiration \| 3 HP:0010535 \| Sleep apnea \| 3 HP:0000625 \| Eyelid coloboma \| 1 HP:0000652 \| Cleft lower eyelid \| 1 HP:0009118 \| Hypoplasia of lower jaw \| 1 HP:0001249 \| Mental retardation \| 1 HP:0002650 \| Scoliosis \| 1 HP:0000482 \| Microcornea \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0008551 \| Hypoplasia of the external ear \| 1 HP:0002032 \| Esophageal atresia \| 1 HP:0000541 \| Detached retina \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0000768 \| Pectus carinatum \| 1

Disease ID	1141
Disease	treacher collins syndrome 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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	1141
Disease	treacher collins syndrome 1
Case	(Waiting for update.)

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