Entry Search - 300170 311200

Search: '300170 311200 (Search in: MIM number)'

Results: 2 entries.

* 300170. OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:13,714,505-13,773,738
Matching terms: 300170
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp22.2	?Retinitis pigmentosa 23	300424	XLR	3
	Joubert syndrome 10	300804	XLR	3
	Orofaciodigital syndrome I	311200	XLD	3
	Simpson-Golabi-Behmel syndrome, type 2	300209	XLR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 403773005, 763833006

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# 311200. OROFACIODIGITAL SYNDROME I; OFD1
Cytogenetic location: Xp22.2
Matching terms: 311200
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp22.2	Orofaciodigital syndrome I	311200	XLD	3	OFD1	300170

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Orofaciodigital syndrome - PS311200 - 18 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Orofaciodigital syndrome XIX	AR	3	620107	SCNM1	608095
1q32.1	Orofaciodigital syndrome V	AR	3	174300	DDX59	615464
3q13.12-q13.13	?Orofaciodigital syndrome XVIII	AR	3	617927	IFT57	606621
4q28.1	?Orofaciodigital syndrome XVII	AR	3	617926	INTU	610621
4q33	?Orofaciodigital syndrome II	AR	3	252100	NEK1	604588
5p13.2	Orofaciodigital syndrome VI	AR	3	277170	CPLANE1	614571
10q24.1	Orofaciodigital syndrome IV	AR	3	258860	TCTN3	613847
11q13.4	Orofaciodigital syndrome XIV	AR	3	615948	C2CD3	615944
17p13.1	?Orofaciodigital syndrome XV	AR	3	617127	KIAA0753	617112
17p13.1	Orofaciodigital syndrome XVI	AR	3	617563	TMEM107	616183
17q11.2	Orofaciodigital syndrome XX	AR	3	620718	RAB34	610917
Xp22.2	Orofaciodigital syndrome I	XLD	3	311200	OFD1	300170
Chr.X	Orofaciodigital syndrome VIII	XLR	2	300484	OFD8	300484
Not Mapped	Orofaciodigital syndrome X	AD		165590	OFD10	165590
Not Mapped	Orofaciodigital syndrome III	AR		258850	OFD3	258850
Not Mapped	Orofaciodigital syndrome IX	AR		258865	OFD9	258865
Not Mapped	Orofaciodigital syndrome VII	AD		608518	OFD7	608518
Not Mapped	Orofaciodigital syndrome XI	IC		612913	OFD11	612913

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
SNOMEDCT: 403773005, 763833006 ORPHA: 2750 DO: 0060316

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Search: 300170 311200 (Search in: MIM number)

Results: 2 entries.

* 300170. OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:13,714,505-13,773,738
Matching terms: 300170

# 311200. OROFACIODIGITAL SYNDROME I; OFD1
Cytogenetic location: Xp22.2
Matching terms: 311200

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Printed: June 6, 2024