Chondrodysplasia

Disease Term Disease ID Gene Symbol Classification References Source
CHONDRODYSPLASIA
C0343284MONDO:0022723
BPNT2 Unknown — Disgenet
CHST11 Unknown — Disgenet
DDR1 Unknown — Disgenet GenCC
GDF5 Unknown — Disgenet
PTH1R Unknown — Disgenet
CHONDRODYSPLASIA BLOMSTRAND TYPE
MONDO:0008970
PTH1R Causal
15525660 17164305 3975110 10523019 9745456 9649554
ClinVar GWAS catalog
CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS
C1859147
SFRP4 Unknown — Disgenet
CHONDRODYSPLASIA PUNCTATA
C0008445MESH:D002806
ARSL Unknown — Disgenet
EBP Unknown
18176751
CTD Disgenet
PEX7 Unknown — Disgenet
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
302950
ARSL Unknown — HPO
CHONDRODYSPLASIA PUNCTATA 2 X-LINKED DOMINANT
EBP Causal — ClinVar
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
302960MONDO:0026782
EBP Unknown
10391218 11309666 22121851 25754886
GWAS catalog HPO
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC
C0282529MESH:D018902
AGPS Unknown — Disgenet
GNPAT Unknown — Disgenet
PEX5 Unknown — Disgenet
PEX7 Unknown
9090381
CTD Disgenet
CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT TYPE
C0282102
EBP Unknown — Disgenet
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS GPAPP TYPE
C3279757
BPNT2 Unknown — Disgenet
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
280586614078MONDO:0013561OMIM:614078
BPNT2 Causal
21549340
CTD ClinGen ClinVar GWAS catalog HPO Orphanet
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
300863C3275476OMIM:300863
HDAC6 Unknown — CTD Disgenet HPO
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES
MESH:C537913
BMPR1B Unknown
15805157
CTD
CHONDRODYSPLASIA, BLOMSTRAND TYPE
C1859148215045MESH:C537914
MYL3 Unknown — Disgenet
PTH1R Unknown — CTD Disgenet HPO
CHONDRODYSPLASIA, GREBE TYPE
C0265260MESH:C537915
BMPR1B Unknown — Disgenet
GDF5 Unknown — CTD Disgenet
CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
C2750075
CORO7-PAM16 Unknown — Disgenet
PAM16 Unknown — Disgenet