TaoMedAI/RareMedData huggingface dataset:
Gene: SNX10
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Growth delay (HP:0001510)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Otitis media (HP:0000388)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Visual loss (HP:0000572)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: PSMC3IP
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Ataxia (HP:0001251)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Gene: PSMC3IP
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Aplasia of the ovary (HP:0010463)
Associated disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Gene: PSMC3IP
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Gene: PSMC3IP
Phenotype: Female infertility (HP:0008222)
Associated disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Gene: PSMC3IP
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Gene: PSMC3IP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Gene: PSMC3IP
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Short stature (HP:0004322)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Gene: PSMC3IP
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Gene: PSMC3IP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Osteopenia (HP:0000938)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Microcephaly (HP:0000252)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: PSMC3IP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: CPSF1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPIA 27 (OMIM:618827)
Gene: CPSF1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MYOPIA 27 (OMIM:618827)
Gene: CPSF1
Phenotype: High myopia (HP:0011003)
Associated disease: MYOPIA 27 (OMIM:618827)
Gene: CPSF1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPSF1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYL11
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Metacarpophalangeal joint contracture (HP:0006070)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Cleft palate (HP:0000175)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Cleft lip (HP:0410030)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Limited head rotation (HP:0033357)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Decreased body weight (HP:0004325)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Hip contracture (HP:0003273)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)