TaoMedAI/RareMedData huggingface dataset:
Gene: ITCH
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Insulin receptor antibody positivity (HP:0031104)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Hepatitis (HP:0012115)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Hepatitis (HP:0012115)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Floppy infant (HP:0008947)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Portal hypertension (HP:0001409)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Frontal bossing (HP:0002007)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Midface retrusion (HP:0011800)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Low hanging columella (HP:0009765)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Hypersplenism (HP:0001971)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Short stature (HP:0004322)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Slender long bone (HP:0003100)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Anti-smooth muscle antibody positivity (HP:0003262)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Prominent occiput (HP:0000269)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Clinodactyly (HP:0030084)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Camptodactyly (HP:0012385)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Low-set ears (HP:0000369)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Short chin (HP:0000331)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Short chin (HP:0000331)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Cholangitis (HP:0030151)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Short philtrum (HP:0000322)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Autoimmunity (HP:0002960)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Choanal atresia (HP:0000453)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Proptosis (HP:0000520)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Proptosis (HP:0000520)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Hallux valgus (HP:0001822)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Ptosis (HP:0000508)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: ITCH
Phenotype: Ptosis (HP:0000508)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Pancytopenia (HP:0001876)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Gene: USP26
Phenotype: Absent sperm axoneme central pair complex (HP:0033525)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Abnormal male external genitalia morphology (HP:0000032)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Microcephalic sperm head (HP:0032561)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: USP26
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Gene: ANGPTL6
Phenotype: Visual field defect (HP:0001123)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Seizure (HP:0001250)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Cerebral berry aneurysm (HP:0007029)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ANGPTL6
Phenotype: Abnormal circle of Willis morphology (HP:0012518)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: RSPH3
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Absent respiratory ciliary axoneme radial spokes (HP:0012267)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Gene: RSPH3
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)