Phenotype: Aplasia/hypoplasia of the humerus (HP:0006507)
Associated genes and diseases:
gene_symbol: FLNB
disease_id: ORPHA:56305
disease_name: Atelosteogenesis type III
AO3
AOIII
Atelosteogenesis type 3
gene_symbol: FZD2
disease_id: OMIM:164745
disease_name: OMODYSPLASIA 2
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: GPC6
disease_id: ORPHA:93329
disease_name: Autosomal recessive omodysplasia
Micromelic dysplasia-dislocation of radius syndrome
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: GDF5
disease_id: OMIM:200700
disease_name: CHONDRODYSPLASIA, GREBE TYPE
gene_symbol: LMBR1
disease_id: OMIM:200500
disease_name: ACHEIROPODY
gene_symbol: LMBR1
disease_id: ORPHA:931
disease_name: Isolated acheiropodia
Isolated acheiropody
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: SNRPB
disease_id: OMIM:117650
disease_name: CEREBROCOSTOMANDIBULAR SYNDROME
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: KIAA0753
disease_id: OMIM:619479
disease_name: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: SALL4
disease_id: OMIM:607323
disease_name: DUANE-RADIAL RAY SYNDROME
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular syndrome
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: ALG12
disease_id: OMIM:607143
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: AGPS
disease_id: OMIM:600121
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: ZIC3
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: FANCB
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: SUCLG1
disease_id: ORPHA:17
disease_name: Fatal infantile lactic acidosis with methylmalonic aciduria
gene_symbol: FLNA
disease_id: OMIM:309350
disease_name: MELNICK-NEEDLES SYNDROME
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
gene_symbol: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: RBM8A
disease_id: ORPHA:3320
disease_name: Thrombocytopenia-absent radius syndrome
TAR syndrome
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME