TaoMedAI/RareMedData huggingface dataset:
Gene: PRRT2
Phenotype: Dissociated sensory loss (HP:0010835)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Spontaneous pain sensation (HP:0010833)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Gene: PRRT2
Phenotype: Athetosis (HP:0002305)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: Athetosis (HP:0002305)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Gene: PRRT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Diplopia (HP:0000651)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Irritability (HP:0000737)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Facial tics (HP:0011468)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Gene: PRRT2
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Photopsia (HP:0030786)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Cyanosis (HP:0000961)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Eyelid myoclonia seizure (HP:0032678)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Trismus (HP:0000211)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Neonatal electro-clinical seizure with behavior arrest (HP:0032823)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Tinnitus (HP:0000360)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Focal impaired awareness autonomic seizure (HP:0032755)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Focal pedal automatism seizure (HP:0032901)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Focal head nodding automatism seizure (HP:0032906)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Focal manual automatism seizure (HP:0032900)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Gene: PRRT2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Torticollis (HP:0000473)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Scotoma (HP:0000575)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: IL17F
Phenotype: Cheilitis (HP:0100825)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Seizure (HP:0001250)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CANDIDIASIS, FAMILIAL, 6 (OMIM:613956)
Gene: IL17F
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Hepatitis (HP:0012115)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: CANDIDIASIS, FAMILIAL, 6 (OMIM:613956)
Gene: IL17F
Phenotype: Hemoptysis (HP:0002105)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Papule (HP:0200034)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Skin ulcer (HP:0200042)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Erythema (HP:0010783)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Cough (HP:0012735)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Hematuria (HP:0000790)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Pruritus (HP:0000989)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Skin rash (HP:0000988)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Dyspareunia (HP:0030016)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Broad nail (HP:0001821)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17F
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IFT43
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Gene: IFT43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Gene: IFT43
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Fine hair (HP:0002213)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: 2-4 toe syndactyly (HP:0010714)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)