TaoMedAI/RareMedData huggingface dataset:
Gene: MSX1
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: TOOTH AGENESIS, SELECTIVE, 1 (OMIM:106600)
Gene: MSX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Thin toenail (HP:0012746)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: TOOTH AGENESIS, SELECTIVE, 1 (OMIM:106600)
Gene: MSX1
Phenotype: Maternal teratogenic exposure (HP:0011438)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Abnormal Eustachian tube morphology (HP:0040115)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Lip pit (HP:0100267)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Sparse hair (HP:0008070)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Concave nail (HP:0001598)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Macrodontia (HP:0001572)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: OROFACIAL CLEFT 5 (OMIM:608874)
Gene: MSX1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Low self-esteem (HP:0031469)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Disturbance of facial expression (HP:0005324)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Abnormal nasal septum morphology (HP:0000419)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Fragile nails (HP:0001808)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Ridged nail (HP:0001807)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Nail pits (HP:0001803)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Visual field defect (HP:0001123)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Microtia (HP:0008551)
Associated disease: PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA (OMIM:168550)
Gene: MSX2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Dermoid cyst (HP:0025247)
Associated disease: PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA (OMIM:168550)
Gene: MSX2
Phenotype: Seizure (HP:0001250)
Associated disease: PARIETAL FORAMINA 1 (OMIM:168500)
Gene: MSX2
Phenotype: Seizure (HP:0001250)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Seizure (HP:0001250)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: PARIETAL FORAMINA 1 (OMIM:168500)
Gene: MSX2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Parietal foramina (HP:0002697)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Parietal foramina (HP:0002697)
Associated disease: PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA (OMIM:168550)
Gene: MSX2
Phenotype: Parietal foramina (HP:0002697)
Associated disease: PARIETAL FORAMINA 1 (OMIM:168500)
Gene: MSX2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA (OMIM:168550)
Gene: MSX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARIETAL FORAMINA 1 (OMIM:168500)
Gene: MSX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Wormian bones (HP:0002645)
Associated disease: PARIETAL FORAMINA 1 (OMIM:168500)
Gene: MSX2
Phenotype: Wormian bones (HP:0002645)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: PARIETAL FORAMINA 1 (OMIM:168500)
Gene: MSX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Cleft lip (HP:0410030)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Multiple exostoses (HP:0002762)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Vomiting (HP:0002013)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Encephalocele (HP:0002084)
Associated disease: PARIETAL FORAMINA 1 (OMIM:168500)
Gene: MSX2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Headache (HP:0002315)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Headache (HP:0002315)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Headache (HP:0002315)
Associated disease: PARIETAL FORAMINA 1 (OMIM:168500)
Gene: MSX2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Congenital craniofacial dysostosis (HP:0008497)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Unicoronal synostosis (HP:0011315)
Associated disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Gene: MSX2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Broad thumb (HP:0011304)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Venous malformation (HP:0012721)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA (OMIM:168550)
Gene: MSX2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: MSX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA (OMIM:168550)
Gene: MSX2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSX2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MSX2
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)