TaoMedAI/RareMedData huggingface dataset:
Gene: HDAC8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Strabismus (HP:0000486)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Microcornea (HP:0000482)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: HDAC8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: HDAC8
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Short neck (HP:0000470)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC8
Phenotype: Short neck (HP:0000470)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Short foot (HP:0001773)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Short foot (HP:0001773)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Short foot (HP:0001773)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: HDAC8
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC8
Phenotype: Pes planus (HP:0001763)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: HDAC8
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC8
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Pes cavus (HP:0001761)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: HDAC8
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Cataract (HP:0000518)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: HDAC8
Phenotype: Cataract (HP:0000518)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC8
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC8
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC8
Phenotype: Telecanthus (HP:0000506)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Ptosis (HP:0000508)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Ptosis (HP:0000508)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Glaucoma (HP:0000501)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC8
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: HDAC8
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Hypermetropia (HP:0000540)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: HDAC8
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC8
Phenotype: Talipes (HP:0001883)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: HDAC8
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC8
Phenotype: Myopia (HP:0000545)
Associated disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Gene: HDAC8
Phenotype: Myopia (HP:0000545)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: ASH1L
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Pica (HP:0011856)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Asymmetry of the ears (HP:0010722)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Scapular winging (HP:0003691)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Irritability (HP:0000737)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Maternal hypertension (HP:0008071)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Overweight (HP:0025502)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Breech presentation (HP:0001623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Astigmatism (HP:0000483)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Prominent nose (HP:0000448)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: ASH1L
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Gene: UNC45A
Phenotype: Increased intestinal transit time (HP:0410204)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Proteinuria (HP:0000093)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Cholestasis (HP:0001396)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Grade II vesicoureteral reflux (HP:0033736)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Large forehead (HP:0002003)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Asthma (HP:0002099)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Ileoileal intussusception (HP:0033309)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Dehydration (HP:0001944)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Villous atrophy (HP:0011473)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Pruritus (HP:0000989)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Weight loss (HP:0001824)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: UNC45A
Phenotype: Food intolerance (HP:0012537)
Associated disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Gene: THSD1
Phenotype: Unilateral deafness (HP:0009900)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Seizure (HP:0001250)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Fusiform cerebral aneurysm (HP:0031056)
Associated disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Gene: THSD1
Phenotype: Neonatal death (HP:0003811)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Gene: THSD1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Internal carotid artery dissection (HP:0012159)
Associated disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Gene: THSD1
Phenotype: Retinopathy of prematurity (HP:0500049)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Gene: THSD1
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Middle age onset (HP:0003596)
Associated disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Gene: THSD1
Phenotype: Late onset (HP:0003584)
Associated disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Gene: THSD1
Phenotype: Cerebral berry aneurysm (HP:0007029)
Associated disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Gene: THSD1
Phenotype: Cerebral berry aneurysm (HP:0007029)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Hemangioma (HP:0001028)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: THSD1
Phenotype: Ascites (HP:0001541)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Fetal pericardial effusion (HP:0025671)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Fetal pleural effusion (HP:0025676)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Long philtrum (HP:0000343)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Arterial fibromuscular dysplasia (HP:0005313)
Associated disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Gene: THSD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)