TaoMedAI/RareMedData huggingface dataset:
Gene: SMOC1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Camptodactyly of 2nd-5th fingers (HP:0001215)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Camptodactyly of 2nd-5th fingers (HP:0001215)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Metatarsal synostosis (HP:0001440)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Large earlobe (HP:0009748)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: 2-5 toe syndactyly (HP:0010715)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Hypoplasia of the premaxilla (HP:0010650)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Broad thumb (HP:0011304)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Short stature (HP:0004322)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Short long bone (HP:0003026)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: True anophthalmia (HP:0011478)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Short tibia (HP:0005736)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Short nose (HP:0003196)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: 4-5 metacarpal synostosis (HP:0005867)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Pes valgus (HP:0008081)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Finger aplasia (HP:0009380)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Finger aplasia (HP:0009380)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Interrupted inferior vena cava with azygous continuation (HP:0011671)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Retrognathia (HP:0000278)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Macrodontia (HP:0001572)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: High palate (HP:0000218)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: High palate (HP:0000218)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Growth delay (HP:0001510)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Flared nostrils (HP:0000454)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Sandal gap (HP:0001852)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Sandal gap (HP:0001852)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Gene: SMOC1
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)
Gene: SMOC2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Gene: SMOC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Pulp obliteration (HP:0006350)
Associated disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Gene: SMOC2
Phenotype: Short dental root (HP:0006336)
Associated disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Gene: SMOC2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Gene: SMOC2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Taurodontia (HP:0000679)
Associated disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Gene: SMOC2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Oligodontia (HP:0000677)
Associated disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Gene: SMOC2
Phenotype: Microdontia (HP:0000691)
Associated disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Gene: SMOC2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)