Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated genes and diseases:
gene_symbol: EVC2
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: EVC
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
gene_symbol: IFT172
disease_id: OMIM:615630
disease_name: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: EXT1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: RAD21
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: TRPS1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: COG4
disease_id: ORPHA:85172
disease_name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: IFT140
disease_id: OMIM:617781
disease_name: RETINITIS PIGMENTOSA 80
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: TRIP11
disease_id: OMIM:184260
disease_name: ODONTOCHONDRODYSPLASIA 1
gene_symbol: MIA3
disease_id: OMIM:619269
disease_name: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: IFT52
disease_id: OMIM:617102
disease_name: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: FLNA
disease_id: OMIM:309350
disease_name: MELNICK-NEEDLES SYNDROME
gene_symbol: FLNA
disease_id: ORPHA:2484
disease_name: Melnick-Needles syndrome
Melnick-Needles osteodysplasty
gene_symbol: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: MIR140
disease_id: OMIM:618618
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: RMRP
disease_id: OMIM:250460
disease_name: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: MRPS28
disease_id: OMIM:618958
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C