Entry Search - 120140 135600 184255

Search: '120140 135600 184255 (Search in: MIM number)'

Results: 3 entries.

* 120140. COLLAGEN, TYPE II, ALPHA-1; COL2A1
CHONDROCALCIN, INCLUDED
Cytogenetic location: 12q13.11, Genomic coordinates (GRCh38): 12:47,972,967-48,006,212
Matching terms: 120140
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q13.11	?Epiphyseal dysplasia, multiple, with myopia and deafness	132450	AD	3
	?Vitreoretinopathy with phalangeal epiphyseal dysplasia	619248	AD	3
	Achondrogenesis, type II or hypochondrogenesis	200610	AD	3
	Avascular necrosis of the femoral head	608805	AD	3
	Czech dysplasia	609162	AD	3
	Kniest dysplasia	156550	AD	3
	Legg-Calve-Perthes disease	150600	AD	3
	Osteoarthritis with mild chondrodysplasia	604864	AD	3
	Platyspondylic skeletal dysplasia, Torrance type	151210	AD	3
	SED congenita	183900	AD	3
	SMED Strudwick type	184250	AD	3
	Spondyloepiphyseal dysplasia, Stanescu type	616583	AD	3
	Spondylometaphyseal dysplasia, Algerian type	184253	AD	3
	Spondyloperipheral dysplasia	271700	AD	3
	Stickler syndrome, type I	108300	AD	3
	Stickler syndrome, type I, nonsyndromic ocular	609508	AD	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1010668008, 111255008, 205483007, 254061001, 254064009, 278713008, 53974002, 702339001, 702350003, 720826006, 773727009, 78675000 ICD10CM: M91.1, Q77.0, Q77.7

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* 135600. FIBRONECTIN 1; FN1
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:215,360,865-215,436,068
Matching terms: 135600
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q35	Glomerulopathy with fibronectin deposits 2	601894	AD	3
2q35	Spondylometaphyseal dysplasia, corner fracture type	184255	AD	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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 254078005, 722759007

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# 184255. SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF
Cytogenetic location: 2q35
Matching terms: 184255
► 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
2q35	Spondylometaphyseal dysplasia, corner fracture type	184255	AD	3	FN1	135600

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Spondylometaphyseal dysplasia - PS184255 - 12 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q35	Spondylometaphyseal dysplasia, corner fracture type	AD	3	184255	FN1	135600
4q21.21	Spondylometaphyseal dysplasia, Pagnamenta type	AR	3	619638	PRKG2	601591
12q13.11	SMED Strudwick type	AD	3	184250	COL2A1	120140
12q13.11	Kniest dysplasia	AD	3	156550	COL2A1	120140
12q13.11	Spondylometaphyseal dysplasia, Algerian type	AD	3	184253	COL2A1	120140
12q24.11	Spondylometaphyseal dysplasia, Kozlowski type	AD	3	184252	TRPV4	605427
16p13.3	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type	AR	3	613320	PAM16	614336
19p13.3	Spondylometaphyseal dysplasia, Sedaghatian type	AR	3	250220	GPX4	138322
19p13.2	Spondyloenchondrodysplasia with immune dysregulation	AR	3	607944	ACP5	171640
21q22.3	Spondylometaphyseal dysplasia, axial	AR	3	602271	CFAP410	603191
Not Mapped	Spondylometaphyseal dysplasia, X-linked	XLD		313420	SMDXL	313420
Not Mapped	Spondylometaphyseal dysplasia, type A4	AR		609052	SMDA4	609052

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

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ICD+
SNOMEDCT: 254078005 ORPHA: 93315 DO: 0112297

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Search: 120140 135600 184255 (Search in: MIM number)

Results: 3 entries.

* 120140. COLLAGEN, TYPE II, ALPHA-1; COL2A1
CHONDROCALCIN, INCLUDED
Cytogenetic location: 12q13.11, Genomic coordinates (GRCh38): 12:47,972,967-48,006,212
Matching terms: 120140

* 135600. FIBRONECTIN 1; FN1
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:215,360,865-215,436,068
Matching terms: 135600

# 184255. SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF
Cytogenetic location: 2q35
Matching terms: 184255

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