TaoMedAI/RareMedData huggingface dataset:
Gene: SOX3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX4
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Wide mouth (HP:0000154)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Short nose (HP:0003196)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Short nose (HP:0003196)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Epicanthus (HP:0000286)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Low-set ears (HP:0000369)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Gene: SOX4
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX4
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX5
Phenotype: Nevus (HP:0003764)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Long fingers (HP:0100807)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Motor delay (HP:0001270)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Seizure (HP:0001250)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Seizure (HP:0001250)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Scoliosis (HP:0002650)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Narrow palate (HP:0000189)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Open mouth (HP:0000194)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Exaggerated median tongue furrow (HP:0002711)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Headache (HP:0002315)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Vertebral clefting (HP:0008428)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Dental crowding (HP:0000678)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Dental crowding (HP:0000678)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Congenital giant melanocytic nevus (HP:0005600)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Anxiety (HP:0000739)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Anxiety (HP:0000739)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Premature thelarche (HP:0010314)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Pruritus (HP:0000989)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Dry skin (HP:0000958)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Epicanthus (HP:0000286)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Clinodactyly (HP:0030084)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: SOX5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Low-set ears (HP:0000369)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Strabismus (HP:0000486)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Strabismus (HP:0000486)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Pes planus (HP:0001763)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Overlapping toe (HP:0001845)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Long hallux (HP:0001847)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX5
Phenotype: Exotropia (HP:0000577)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Myopia (HP:0000545)
Associated disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Gene: SOX5
Phenotype: Myopia (HP:0000545)
Associated disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Gene: SOX9
Phenotype: Spina bifida (HP:0002414)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Seizure (HP:0001250)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hypotonia (HP:0001252)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: SOX9
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)