Phenotype: Aplasia/Hypoplasia of the scapulae (HP:0006713)
Associated genes and diseases:
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: DYM
disease_id: OMIM:607326
disease_name: SMITH-MCCORT DYSPLASIA 1
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: RSPO2
disease_id: OMIM:618022
disease_name: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: COL2A1
disease_id: ORPHA:85166
disease_name: Platyspondylic dysplasia, Torrance type
PLSD-T
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type
gene_symbol: INPPL1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: SLC35D1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: ACTB
disease_id: ORPHA:79107
disease_name: Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome
gene_symbol: ACTB
disease_id: OMIM:607371
disease_name: DYSTONIA, JUVENILE-ONSET
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: RUNX2
disease_id: ORPHA:1452
disease_name: Cleidocranial dysplasia
Cleidocranial dysostosis
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: COL11A1
disease_id: OMIM:228520
disease_name: FIBROCHONDROGENESIS 1
gene_symbol: COL11A1
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: COL11A1
disease_id: ORPHA:440354
disease_name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: FLNA
disease_id: OMIM:309350
disease_name: MELNICK-NEEDLES SYNDROME
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: COL11A2
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: FGFR3
disease_id: OMIM:187601
disease_name: THANATOPHORIC DYSPLASIA, TYPE II
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome