TaoMedAI/RareMedData huggingface dataset:
Gene: RMRP
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Micromelia (HP:0002983)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Femoral bowing (HP:0002980)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Breech presentation (HP:0001623)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Genu varum (HP:0002970)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Pointed chin (HP:0000307)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Susceptibility to chickenpox (HP:0005360)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Macrotia (HP:0000400)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Strabismus (HP:0000486)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Short neck (HP:0000470)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Short neck (HP:0000470)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Short foot (HP:0001773)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Short toe (HP:0001831)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Myopia (HP:0000545)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RNASEL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROSTATE CANCER, HEREDITARY, 1 (OMIM:601518)
Gene: RNASEL
Phenotype: Prostate cancer (HP:0012125)
Associated disease: PROSTATE CANCER, HEREDITARY, 1 (OMIM:601518)
Gene: RNASEL
Phenotype: Adult onset (HP:0003581)
Associated disease: PROSTATE CANCER, HEREDITARY, 1 (OMIM:601518)
Gene: RNF2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Seizure (HP:0001250)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Wide mouth (HP:0000154)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Small hand (HP:0200055)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Fetal onset (HP:0011461)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Short philtrum (HP:0000322)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Astigmatism (HP:0000483)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Strabismus (HP:0000486)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Short foot (HP:0001773)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Wide nose (HP:0000445)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF2
Phenotype: Exotropia (HP:0000577)
Associated disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Gene: RNF6
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: RNF6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: RNF6
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: RNF6
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: RNF6
Phenotype: Chest pain (HP:0100749)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: RNF6
Phenotype: Cough (HP:0012735)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: RNF6
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: RNF6
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: RNF6
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: RNF6
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: RNH1
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Clonic seizure (HP:0020221)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Exophoria (HP:0025313)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: RNH1
Phenotype: Cataract (HP:0000518)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Gene: ROBO1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Seizure (HP:0001250)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Absent pituitary stalk (HP:0034976)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Interrupted pituitary stalk (HP:0034978)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:257400)
Gene: ROBO1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Anterior pituitary agenesis (HP:0010626)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Iris atrophy (HP:0001089)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Stage 2 chronic kidney disease (HP:0012624)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:257400)
Gene: ROBO1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Short stature (HP:0004322)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Short stature (HP:0004322)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:257400)
Gene: ROBO1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Short hallux (HP:0010109)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Tetralogy of Fallot with pulmonary stenosis (HP:0011679)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)