TaoMedAI/RareMedData huggingface dataset:
Gene: TDRD9
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TDRD9
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 30 (OMIM:618110)
Gene: TDRD9
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TDRD9
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 30 (OMIM:618110)
Gene: AK7
Phenotype: Absent sperm axoneme central pair complex (HP:0033525)
Associated disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Gene: AK7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Gene: AK7
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Gene: AK7
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Gene: AK7
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Gene: AK7
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Gene: AK7
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Gene: AK7
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Gene: TRAPPC6B
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Broad-based gait (HP:0002136)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Hand tremor (HP:0002378)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Motor regression (HP:0033044)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: TRAPPC6B
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Gene: ADSS1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Ankle contracture (HP:0034677)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Quadriceps muscle atrophy (HP:0009050)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Elbow contracture (HP:0034391)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: High palate (HP:0000218)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Fatigable weakness of chewing muscles (HP:0030193)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Gene: ADSS1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ADSS1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Gene: ISCA2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Spasticity (HP:0001257)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Absent speech (HP:0001344)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Developmental regression (HP:0002376)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Progressive (HP:0003676)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Vegetative state (HP:0031358)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: ISCA2
Phenotype: Visual impairment (HP:0000505)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Gene: TTC8
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hypospadias (HP:0000047)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Polydactyly (HP:0010442)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)