Phenotype: Abnormal scapula morphology (HP:0000782)
Associated genes and diseases:
gene_symbol: GPX4
disease_id: ORPHA:93317
disease_name: Spondylometaphyseal dysplasia, Sedaghatian type
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: WNT3
disease_id: OMIM:273395
disease_name: TETRAAMELIA SYNDROME 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: 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: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
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: 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: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: PAX3
disease_id: ORPHA:894
disease_name: Waardenburg syndrome type 1
WS1
Waardenburg syndrome type I
gene_symbol: PAX3
disease_id: OMIM:193500
disease_name: WAARDENBURG SYNDROME, TYPE 1
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: EFNB1
disease_id: ORPHA:1520
disease_name: Craniofrontonasal dysplasia
CFND
CFNS
Craniofrontonasal syndrome
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: TBX5
disease_id: ORPHA:392
disease_name: Holt-Oram syndrome
Atriodigital dysplasia type 1
HOS
Heart-hand syndrome type 1
gene_symbol: GDF6
disease_id: OMIM:118100
disease_name: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: GDF6
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: RPL11
disease_id: OMIM:612562
disease_name: DIAMOND-BLACKFAN ANEMIA 7
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: FLNA
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: MAP3K7
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: TMCO1
disease_id: ORPHA:1394
disease_name: Cerebrofaciothoracic dysplasia
Pascual-Castroviejo syndrome type 1
gene_symbol: NPR2
disease_id: ORPHA:40
disease_name: Acromesomelic dysplasia, Maroteaux type
gene_symbol: PTPN11
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: BRAF
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: RAF1
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: FHL1
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: EMD
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: CDH2
disease_id: OMIM:618929
disease_name: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: SF3B4
disease_id: ORPHA:1788
disease_name: Acrofacial dysostosis, Rodríguez type
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS20
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ADA2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: GDF3
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: MEOX1
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: MEOX1
disease_id: OMIM:214300
disease_name: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: SEPTIN9
disease_id: ORPHA:2901
disease_name: Neuralgic amyotrophy
Acute brachial plexus neuritis
Brachial plexus neuritis
Immune brachial plexus neuropathy
Mononeuritis multiplex with brachial predilection
Neuralgic shoulder amyotrophy
gene_symbol: WBP11
disease_id: OMIM:619227
disease_name: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
gene_symbol: LMNA
disease_id: ORPHA:98855
disease_name: Autosomal recessive Emery-Dreifuss muscular dystrophy
EDMD3
gene_symbol: LMNA
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: TBX3
disease_id: ORPHA:3138
disease_name: Ulnar-mammary syndrome
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
gene_symbol: TMEM43
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE1
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE2
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: EXT1
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT1
disease_id: OMIM:133700
disease_name: EXOSTOSES, MULTIPLE, TYPE I
gene_symbol: EXT2
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT2
disease_id: OMIM:133701
disease_name: EXOSTOSES, MULTIPLE, TYPE II
gene_symbol: LEMD3
disease_id: ORPHA:166119
disease_name: Isolated osteopoikilosis
gene_symbol: SOST
disease_id: OMIM:269500
disease_name: SCLEROSTEOSIS 1
gene_symbol: BIN1
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: BIN1
disease_id: OMIM:255200
disease_name: MYOPATHY, CENTRONUCLEAR, 2
gene_symbol: SPEG
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: RYR1
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: RYR1
disease_id: ORPHA:424107
disease_name: Congenital myopathy with myasthenic-like onset
gene_symbol: TTN
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: TTN
disease_id: OMIM:603689
disease_name: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: CUL7
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CUL7
disease_id: OMIM:273750
disease_name: THREE M SYNDROME 1
gene_symbol: OBSL1
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: OBSL1
disease_id: OMIM:612921
disease_name: THREE M SYNDROME 2
gene_symbol: CCDC8
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: VCP
disease_id: OMIM:167320
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1
gene_symbol: VCP
disease_id: ORPHA:435387
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 due to VCP mutation
CMT2Y
gene_symbol: VCP
disease_id: ORPHA:329478
disease_name: Adult-onset distal myopathy due to VCP mutation
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: TNNT1
disease_id: OMIM:620389
disease_name: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT
gene_symbol: CAPN3
disease_id: OMIM:253600
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1
gene_symbol: CAPN3
disease_id: ORPHA:267
disease_name: Calpain-3-related limb-girdle muscular dystrophy R1
Autosomal recessive limb-girdle muscular dystrophy type 2A
Calpain-3-related LGMD R1
LGMD type 2A
LGMD2A
Limb-girdle muscular dystrophy due to calpain deficiency
Limb-girdle muscular dystrophy type 2A
Primary calpainopathy
gene_symbol: CAPN3
disease_id: OMIM:618129
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
gene_symbol: DUX4L1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: DNMT3B
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: FRG1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: FRG1
disease_id: OMIM:158900
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
gene_symbol: SMCHD1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: SMCHD1
disease_id: OMIM:158901
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2
gene_symbol: DUX4
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: SGCA
disease_id: OMIM:608099
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3
gene_symbol: SGCA
disease_id: ORPHA:62
disease_name: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Alpha-sarcoglycan-related LGMD R3
Alpha-sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D
LGMD due to alpha-sarcoglycan deficiency
LGMD type 2D
LGMD2D
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2D
gene_symbol: DYSF
disease_id: ORPHA:268
disease_name: Dysferlin-related limb-girdle muscular dystrophy R2
Autosomal recessive limb-girdle muscular dystrophy type 2B
Dysferlin-related LGMD R2
LGMD due to dysferlin deficiency
LGMD type 2B
LGMD2B
Limb-girdle muscular dystrophy due to dysferlin deficiency
Limb-girdle muscular dystrophy type 2B
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: TK2
disease_id: OMIM:617069
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
gene_symbol: POLG
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: CRPPA
disease_id: OMIM:616052
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
gene_symbol: CRPPA
disease_id: ORPHA:352479
disease_name: ISPD-related limb-girdle muscular dystrophy R20
Autosomal recessive limb-girdle muscular dystrophy type 2U
ISPD-related LGMD R20
LGMD type 2U
LGMD2U
Limb-girdle muscular dystrophy type 2U
gene_symbol: CSGALNACT1
disease_id: OMIM:618870
disease_name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
gene_symbol: ACTA1
disease_id: OMIM:616852
disease_name: MYOPATHY, SCAPULOHUMEROPERONEAL
gene_symbol: ACTA1
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: SGCB
disease_id: OMIM:604286
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4
gene_symbol: GYG1
disease_id: OMIM:613507
disease_name: GLYCOGEN STORAGE DISEASE XV
gene_symbol: RYR3
disease_id: OMIM:620310
disease_name: CONGENITAL MYOPATHY 20
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
gene_symbol: GMPPB
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: GFPT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: DPAGT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: ALG2
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: ALG2
disease_id: OMIM:616228
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 14
gene_symbol: ALG14
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: SGCD
disease_id: OMIM:601287
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
gene_symbol: SGCD
disease_id: ORPHA:219
disease_name: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Autosomal recessive limb-girdle muscular dystrophy type 2F
Delta-sarcoglycan-related LGMD R6
Delta-sarcoglycanopathy
LGMD due to delta-sarcoglycan deficiency
LGMD type 2F
LGMD2F
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2F
gene_symbol: PLIN4
disease_id: OMIM:601846
disease_name: VACUOLAR NEUROMYOPATHY
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: SQSTM1
disease_id: OMIM:617158
disease_name: MYOPATHY, DISTAL, WITH RIMMED VACUOLES
gene_symbol: TPM2
disease_id: OMIM:609285
disease_name: NEMALINE MYOPATHY 4
gene_symbol: TPM2
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: VWA1
disease_id: OMIM:619216
disease_name: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES
gene_symbol: ANXA11
disease_id: OMIM:619733
disease_name: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: MYBPC1
disease_id: OMIM:618524
disease_name: MYOPATHY, CONGENITAL, WITH TREMOR
gene_symbol: EYA1
disease_id: ORPHA:2792
disease_name: Otofaciocervical syndrome
Fara-Chlupackova syndrome
OFC syndrome
gene_symbol: EYA1
disease_id: OMIM:166780
disease_name: OTOFACIOCERVICAL SYNDROME 1
gene_symbol: PAX1
disease_id: ORPHA:2792
disease_name: Otofaciocervical syndrome
Fara-Chlupackova syndrome
OFC syndrome
gene_symbol: PAX1
disease_id: OMIM:615560
disease_name: OTOFACIOCERVICAL SYNDROME 2
gene_symbol: MYH7
disease_id: OMIM:608358
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: GNE
disease_id: ORPHA:602
disease_name: GNE myopathy
DMRV
Distal myopathy with rimmed vacuoles
Distal myopathy, Nonaka type
HIBM2
Hereditary inclusion body myopathy type 2
IBM2
Inclusion body myopathy type 2
Nonaka myopathy
Quadriceps-sparing myopathy
gene_symbol: MYH2
disease_id: OMIM:605637
disease_name: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA
gene_symbol: PUS1
disease_id: OMIM:600462
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
gene_symbol: COL12A1
disease_id: OMIM:616471
disease_name: BETHLEM MYOPATHY 2
gene_symbol: COL12A1
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: SPRED2
disease_id: OMIM:619745
disease_name: NOONAN SYNDROME 14
gene_symbol: BAG3
disease_id: OMIM:612954
disease_name: MYOPATHY, MYOFIBRILLAR, 6
gene_symbol: NEFL
disease_id: ORPHA:101085
disease_name: Charcot-Marie-Tooth disease type 1F
CMT1F
gene_symbol: FBN1
disease_id: OMIM:616914
disease_name: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
gene_symbol: SGCG
disease_id: ORPHA:353
disease_name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Autosomal recessive limb-girdle muscular dystrophy type 2C
Gamma-sarcoglycan-related LGMD R5
Gamma-sarcoglycanopathy
LGMD due to gamma-sarcoglycan deficiency
LGMD type 2C
LGMD2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2C
gene_symbol: LRIF1
disease_id: OMIM:619477
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC
gene_symbol: MYPN
disease_id: OMIM:617336
disease_name: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE
gene_symbol: MYPN
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: GDF11
disease_id: OMIM:619122
disease_name: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
gene_symbol: LGI4
disease_id: OMIM:617468
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT
gene_symbol: COLQ
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: LAMB2
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: SCN4A
disease_id: OMIM:620369
disease_name: CONGENITAL MYOPATHY 22B, SEVERE FETAL
gene_symbol: COL6A1
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A2
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A3
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: BICD2
disease_id: OMIM:615290
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
gene_symbol: EMILIN1
disease_id: OMIM:620080
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10
gene_symbol: FLNC
disease_id: ORPHA:171445
disease_name: Muscle filaminopathy
FLNC-associated myofibrillar myopathy
Filamin C-related filaminopathy
MFM5
gene_symbol: POGLUT1
disease_id: OMIM:617232
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: KBTBD13
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: POMT2
disease_id: ORPHA:206559
disease_name: POMT2-related limb-girdle muscular dystrophy R14
Autosomal recessive limb-girdle muscular dystrophy type 2N
LGMD type 2N
LGMD2N
Limb-girdle muscular dystrophy type 2N
POMT2-related LGMD R14
gene_symbol: SMPX
disease_id: OMIM:301075
disease_name: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: TNPO3
disease_id: OMIM:608423
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2
gene_symbol: TRPV4
disease_id: OMIM:181405
disease_name: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
gene_symbol: ANO5
disease_id: ORPHA:206549
disease_name: Anoctamin-5-related limb-girdle muscular dystrophy R12
Anoctamin-5-related LGMD R12
Autosomal recessive limb-girdle muscular dystrophy type 2L
LGMD type 2L
LGMD2L
Limb-girdle muscular dystrophy type 2L
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: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: LYSET
disease_id: OMIM:619345
disease_name: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
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
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: DYM
disease_id: ORPHA:239
disease_name: Dyggve-Melchior-Clausen disease
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME