TaoMedAI/RareMedData huggingface dataset:
Gene: DHCR7
Phenotype: Seizure (HP:0001250)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypotonia (HP:0001252)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hypotonia (HP:0001252)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Cirrhosis (HP:0001394)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Small scrotum (HP:0000046)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Micropenis (HP:0000054)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypospadias (HP:0000047)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hypospadias (HP:0000047)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Severe photosensitivity (HP:0007537)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Scoliosis (HP:0002650)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Rhizomelia (HP:0008905)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Cleft palate (HP:0000175)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Cleft palate (HP:0000175)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Microglossia (HP:0000171)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Microglossia (HP:0000171)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Wide mouth (HP:0000154)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Renal cyst (HP:0000107)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Renal agenesis (HP:0000104)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Recurrent infections (HP:0002719)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Constipation (HP:0002019)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Poor suck (HP:0002033)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Vomiting (HP:0002013)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Elevated circulating 7-dehydrocholesterol concentration (HP:0010569)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Elevated circulating 7-dehydrocholesterol concentration (HP:0010569)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Congenital onset (HP:0003577)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Short thumb (HP:0009778)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Nystagmus (HP:0000639)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Nystagmus (HP:0000639)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Sclerocornea (HP:0000647)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Iris coloboma (HP:0000612)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Dental crowding (HP:0000678)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Short stature (HP:0004322)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Short stature (HP:0004322)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Mesomelia (HP:0003027)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hyperactivity (HP:0000752)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Self-mutilation (HP:0000742)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Autism (HP:0000717)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Autism (HP:0000717)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Precocious puberty (HP:0000826)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypertension (HP:0000822)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Bifid tongue (HP:0010297)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abdominal distention (HP:0003270)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Facial capillary hemangioma (HP:0000996)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Facial capillary hemangioma (HP:0000996)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Sacral dimple (HP:0000960)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Aplasia/Hypoplasia affecting the eye (HP:0008056)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Epicanthus (HP:0000286)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Epicanthus (HP:0000286)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Kyphosis (HP:0002808)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Microcephaly (HP:0000252)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Microcephaly (HP:0000252)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Gastroschisis (HP:0001543)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Death in infancy (HP:0001522)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hip subluxation (HP:0030043)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Colpocephaly (HP:0030048)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Growth delay (HP:0001510)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Growth delay (HP:0001510)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Low-set ears (HP:0000369)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Long philtrum (HP:0000343)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Long philtrum (HP:0000343)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)