Skeletal dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CHST3-RELATED SKELETAL DYSPLASIA | CHST3 | Unknown | Orphanet | ||
| SKELETAL DYSPLASIA | COL1A2 | Causal | — | Disgenet | |
| COPB1 | Causal | — | Disgenet | ||
| GALNS | Causal | — | Disgenet | ||
| TRPV4 | Causal | — | Disgenet | ||
| ANKH | Unknown | — | Disgenet GenCC | ||
| CHST3 | Unknown | — | Disgenet | ||
| COL1A1 | Unknown | — | Disgenet | ||
| COL5A1 | Unknown | — | Disgenet | ||
| CTSK | Unknown | — | Disgenet | ||
| DYNC2H1 | Unknown | — | Disgenet | ||
| FGFR3 | Unknown | — | Disgenet | ||
| INPP5E | Unknown | — | Disgenet | ||
| LOXL4 | Unknown | — | Disgenet GenCC | ||
| MSGN1 | Unknown | — | Disgenet GenCC | ||
| PRMT7 | Unknown | — | Disgenet | ||
| SEMA3A | Unknown | Disgenet GWAS catalog | |||
| SEMA3D | Unknown | GWAS catalog | |||
| SLC26A2 | Unknown | GenCC | |||
| TMEM53 | Unknown | GenCC | |||
| TP63 | Unknown | — | Disgenet | ||
| UXS1 | Unknown | — | Disgenet GenCC | ||
| SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL | TRPV4 | Causal | — | Disgenet | |
| SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS | FGFR3 | Causal | — | Disgenet | |
| SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE | CSGALNACT1 | Causal | ClinGen Disgenet GWAS catalog HPO | ||
| SKELETAL DYSPLASIA, T-CELL IMMUNODEFICIENCY, DEVELOPMENTAL DELAY SYNDROME | EXTL3 | Unknown | — | Disgenet | |
| SKELETAL DYSPLASIA-T-CELL IMMUNODEFICIENCY-DEVELOPMENTAL DELAY SYNDROME | EXTL3 | Unknown | Orphanet |