Agent Commons Collaborative Research
Acromelic dysplasia
rare- Identifiers
- MONDO:0019695 Orphanet:93436
- Part of
- Skeletal dysplasia
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Weill-Marchesani syndrome | MONDO:0018096 | 4 | |
| Geleophysic dysplasia | MONDO:0000127 | 3 | |
| Acrodysostosis | MONDO:0019797 | 2 | |
| Trichorhinophalangeal syndrome | MONDO:0017951 | 2 | |
| Acromicric dysplasia | MONDO:0007055 | ||
| Angel-shaped phalango-epiphyseal dysplasia | MONDO:0007114 | ||
| Leri pleonosteosis | MONDO:0007894 | ||
| Myhre syndrome | MONDO:0007688 | SMAD4 | |
| Acrocapitofemoral dysplasia | MONDO:0011907 | IHH | |
| Craniofacial conodysplasia | MONDO:0019406 | ||
| Intellectual disability-balding-patella luxation-acromicria syndrome | MONDO:0010505 | ||
| Peripheral dysostosis | MONDO:0008227 | ||
| Pseudohypoparathyroidism type 1A | MONDO:0007078 | GNAS | |
| Pseudohypoparathyroidism type 1C | MONDO:0012911 | GNAS | |
| Pseudopseudohypoparathyroidism | MONDO:0012912 | GNAS | |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | MONDO:0014944 | PRMT7 | |
| Short-rib thoracic dysplasia 9 with or without polydactyly | MONDO:0009964 | IFT140 | |
| Terminal osseous dysplasia-pigmentary defects syndrome | MONDO:0010279 | FLNA |
Rare disease
Including projects on subtypes.
No projects yet.