TaoMedAI/RareMedData huggingface dataset:
Gene: TOPORS
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Apnea (HP:0002104)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Hypoplasia of olfactory tract (HP:0007036)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Midline notch of upper alveolar ridge (HP:0009084)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Short stature (HP:0004322)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Mesoaxial polydactyly (HP:0100260)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINITIS PIGMENTOSA 31 (OMIM:609923)
Gene: TOPORS
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Epicanthus (HP:0000286)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Long face (HP:0000276)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: High palate (HP:0000218)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Growth delay (HP:0001510)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 31 (OMIM:609923)
Gene: TOPORS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Micrognathia (HP:0000347)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 31 (OMIM:609923)
Gene: TOPORS
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 31 (OMIM:609923)
Gene: TOPORS
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Esotropia (HP:0000565)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRG4
Phenotype: Infantile sensorineural hearing impairment (HP:0008610)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Constrictive pericarditis (HP:0002563)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Wrist swelling (HP:0001225)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Flattened femoral head (HP:0008812)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Bone cyst (HP:0012062)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Arthritis (HP:0001369)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Osteoarthritis of the elbow (HP:0003940)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Pleuritis (HP:0002102)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Flattened metacarpal heads (HP:0011909)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Acute phase response (HP:0033331)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Arthropathy (HP:0003040)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Coxa vara (HP:0002812)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Coxa vara (HP:0002812)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Ascites (HP:0001541)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Generalized morning stiffness (HP:0005197)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Polyarticular arthropathy (HP:0005195)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Flattened metatarsal heads (HP:0005194)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Synovial lining hyperplasia (HP:0005186)
Associated disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Gene: PRG4
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Pericarditis (HP:0001701)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: PRG4
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: Pericarditis-arthropathy-camptodactyly syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
Gene: GDF11
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Midface retrusion (HP:0011800)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Congenital onset (HP:0003577)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Six lumbar vertebrae (HP:0008416)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Scapular winging (HP:0003691)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Epicanthus (HP:0000286)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Prominent occiput (HP:0000269)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Thickened helices (HP:0000391)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Widow's peak (HP:0000349)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Micrognathia (HP:0000347)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Pes planus (HP:0001763)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Darwin tubercle of helix (HP:0011261)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: GDF11
Phenotype: Blue sclerae (HP:0000592)
Associated disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Gene: CD96
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: C SYNDROME (OMIM:211750)