TaoMedAI/RareMedData huggingface dataset:
Gene: ZIC3
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: ZIC3
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZIC3
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Dextrocardia (HP:0001651)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: ZIC3
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZIC3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: ZIC3
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: ZIC3
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Single ventricle (HP:0001750)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Asplenia (HP:0001746)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Polysplenia (HP:0001748)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZIC3
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZIC3
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Gene: ZNF711
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Broad face (HP:0000283)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Obesity (HP:0001513)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: ZNF711
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Gene: CNBP
Phenotype: Myotonia (HP:0002486)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Myotonia (HP:0002486)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Sternocleidomastoid amyotrophy (HP:0012036)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Hypogonadism (HP:0000135)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Constipation (HP:0002019)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Myalgia (HP:0003326)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Dysphagia (HP:0002015)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Insulin insensitivity (HP:0008189)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Insulin insensitivity (HP:0008189)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Middle age onset (HP:0003596)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Frontal balding (HP:0002292)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Palpitations (HP:0001962)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Fatigue (HP:0012378)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Iridescent posterior subcapsular cataract (HP:0007889)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Abnormality of thyroid physiology (HP:0002926)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Tachycardia (HP:0001649)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Gene: CNBP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Restless legs (HP:0012452)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: CNBP
Phenotype: Cataract (HP:0000518)
Associated disease: Ricker syndrome; Proximal myotonic myopathy; Ricker disease; Myotonic dystrophy type 2; Proximal myotonic dystrophy (ORPHA:606)
Gene: MKRN3
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 2 (OMIM:615346)
Gene: MKRN3
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Premature thelarche (HP:0010314)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 2 (OMIM:615346)
Gene: MKRN3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Edema (HP:0000969)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Autosomal dominant inheritance with maternal imprinting (HP:0012275)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 2 (OMIM:615346)
Gene: MKRN3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Class III obesity (HP:0025501)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Obesity (HP:0001513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)