TaoMedAI/RareMedData huggingface dataset:
Gene: WDR19
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Short foot (HP:0001773)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Short foot (HP:0001773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Protruding ear (HP:0000411)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Cataract (HP:0000518)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Cataract (HP:0000518)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Visual impairment (HP:0000505)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Visual impairment (HP:0000505)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Visual impairment (HP:0000505)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Mild proteinuria (HP:0012595)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Myopia (HP:0000545)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Myopia (HP:0000545)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: SPTBN4
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Demyelinating motor neuropathy (HP:0007220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Areflexia (HP:0001284)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Poor suck (HP:0002033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Myopathic facies (HP:0002058)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Recurrent infections due to aspiration (HP:0004891)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Ankle contracture (HP:0034677)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Facial palsy (HP:0010628)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: SPTBN4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Gene: GATAD1
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)
Gene: GATAD1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)
Gene: GATAD1
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)
Gene: GATAD1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)
Gene: GATAD1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)
Gene: GATAD1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)
Gene: GATAD1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GATAD1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAMP
Phenotype: Lethargy (HP:0001254)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Cirrhosis (HP:0001394)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Abnormality of endocrine pancreas physiology (HP:0012093)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Hypogonadism (HP:0000135)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Hypogonadism (HP:0000135)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Impotence (HP:0000802)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Arthropathy (HP:0003040)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Young adult onset (HP:0011462)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: HAMP
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HAMP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Gene: GRHL3
Phenotype: Language impairment (HP:0002463)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: GRHL3
Phenotype: Receptive language delay (HP:0010863)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: GRHL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Gene: GRHL3
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Bifidity of the uvula; Bifid uvula; Uvular cleft (ORPHA:99771)
Gene: GRHL3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: GRHL3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: GRHL3
Phenotype: Lower lip pit (HP:0000196)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: GRHL3
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: GRHL3
Phenotype: Cleft palate (HP:0000175)
Associated disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Gene: GRHL3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: GRHL3
Phenotype: Cleft lip (HP:0410030)
Associated disease: Bifidity of the uvula; Bifid uvula; Uvular cleft (ORPHA:99771)
Gene: GRHL3
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: Bifidity of the uvula; Bifid uvula; Uvular cleft (ORPHA:99771)
Gene: GRHL3
Phenotype: Congenital onset (HP:0003577)
Associated disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Gene: GRHL3
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Bifidity of the uvula; Bifid uvula; Uvular cleft (ORPHA:99771)
Gene: GRHL3
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Anodontia (HP:0000674)
Associated disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Gene: GRHL3
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Gene: GRHL3
Phenotype: Hypodontia (HP:0000668)
Associated disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Gene: GRHL3
Phenotype: Hypodontia (HP:0000668)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: GRHL3
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: GRHL3
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: GRHL3
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: GRHL3
Phenotype: Lip pit (HP:0100267)
Associated disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Gene: GRHL3
Phenotype: Lip pit (HP:0100267)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: GRHL3
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Cleft hard palate (ORPHA:101023)