TaoMedAI/RareMedData huggingface dataset:
Gene: WFS1
Phenotype: Myopathy (HP:0003198)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: WFS1
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Central apnea (HP:0002871)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Growth delay (HP:0001510)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 6 (OMIM:600965)
Gene: WFS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Cataract (HP:0000518)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Ptosis (HP:0000508)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Glaucoma (HP:0000501)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Glaucoma (HP:0000501)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: WFS1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: -
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Split hand (HP:0001171)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Sporadic (HP:0003745)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Seizure (HP:0001250)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Hypospadias (HP:0000047)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Scoliosis (HP:0002650)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Short upper lip (HP:0000188)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Cleft palate (HP:0000175)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Prominent glabella (HP:0002057)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Tethered cord (HP:0002144)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Malrotation of small bowel (HP:0004794)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Abnormal sternal ossification (HP:0011863)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Hemangioma (HP:0001028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: EEG abnormality (HP:0002353)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Short thumb (HP:0009778)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Nystagmus (HP:0000639)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Iris coloboma (HP:0000612)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Hypodontia (HP:0000668)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Short stature (HP:0004322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Short hallux (HP:0010109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Rib fusion (HP:0000902)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Craniofacial asymmetry (HP:0004484)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Preauricular pit (HP:0004467)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Precocious puberty (HP:0000826)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Sacral dimple (HP:0000960)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Epicanthus (HP:0000286)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Kyphosis (HP:0002808)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Microcephaly (HP:0000252)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Small for gestational age (HP:0001518)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Growth delay (HP:0001510)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: High forehead (HP:0000348)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Micrognathia (HP:0000347)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Short philtrum (HP:0000322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Strabismus (HP:0000486)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Webbed neck (HP:0000465)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Accessory spleen (HP:0001747)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Proptosis (HP:0000520)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Ptosis (HP:0000508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: -
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)