Phenotype: Slender long bone (HP:0003100)
Associated genes and diseases:
gene_symbol: NSMCE2
disease_id: OMIM:617253
disease_name: SECKEL SYNDROME 10
gene_symbol: CCDC134
disease_id: OMIM:619795
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXII
gene_symbol: MUSK
disease_id: OMIM:208150
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 1
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: PPP3CA
disease_id: OMIM:618265
disease_name: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: GLE1
disease_id: ORPHA:1486
disease_name: Lethal congenital contracture syndrome type 1
Herva disease
LCCS1
Multiple contracture syndrome, Finnish type
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: CCDC8
disease_id: OMIM:614205
disease_name: THREE M SYNDROME 3
gene_symbol: NFIX
disease_id: ORPHA:420179
disease_name: Malan overgrowth syndrome
Sotos syndrome 2
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: NFIX
disease_id: ORPHA:561
disease_name: Marshall-Smith syndrome
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: MAFB
disease_id: ORPHA:2774
disease_name: Multicentric carpo-tarsal osteolysis with or without nephropathy
Idiopathic multicentric osteolysis with or without nephropathy
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: ITCH
disease_id: OMIM:613385
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
gene_symbol: HARS1
disease_id: ORPHA:488333
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
CMT2W
gene_symbol: ERCC1
disease_id: OMIM:610758
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 4
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: TBCE
disease_id: OMIM:244460
disease_name: KENNY-CAFFEY SYNDROME, TYPE 1
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: ORC1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: SCN4A
disease_id: OMIM:620369
disease_name: CONGENITAL MYOPATHY 22B, SEVERE FETAL
gene_symbol: LARP7
disease_id: ORPHA:319671
disease_name: Alazami syndrome
Microcephalic primordial dwarfism, Alazami type
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: CDT1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDT1
disease_id: OMIM:613804
disease_name: MEIER-GORLIN SYNDROME 4
gene_symbol: ORC4
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC4
disease_id: OMIM:613800
disease_name: MEIER-GORLIN SYNDROME 2
gene_symbol: ORC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC6
disease_id: OMIM:613803
disease_name: MEIER-GORLIN SYNDROME 3
gene_symbol: CDC45
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC6
disease_id: OMIM:613805
disease_name: MEIER-GORLIN SYNDROME 5
gene_symbol: GMNN
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: FAM111A
disease_id: OMIM:602361
disease_name: GRACILE BONE DYSPLASIA
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
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