TaoMedAI/RareMedData huggingface dataset:
Gene: GAS1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Proboscis (HP:0012806)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Proboscis (HP:0012806)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Proboscis (HP:0012806)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Proboscis (HP:0012806)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: High palate (HP:0000218)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: High palate (HP:0000218)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: High palate (HP:0000218)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Central apnea (HP:0002871)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Central apnea (HP:0002871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Central apnea (HP:0002871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Growth delay (HP:0001510)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Growth delay (HP:0001510)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Growth delay (HP:0001510)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GAS1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620877)
Gene: GAS2
Phenotype: Congenital onset (HP:0003577)
Associated disease:  (OMIM:620877)
Gene: GAS2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease:  (OMIM:620877)
Gene: GAS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease:  (OMIM:620877)
Gene: GAS2
Phenotype: Childhood onset (HP:0011463)
Associated disease:  (OMIM:620877)
Gene: GAS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease:  (OMIM:620877)
Gene: GAS2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease:  (OMIM:620877)
Gene: DRC4
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Atelectasis (HP:0100750)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Gene: DRC4
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)