TaoMedAI/RareMedData huggingface dataset:
Gene: SELENON
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Pes planus (HP:0001763)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Hypercapnia (HP:0012416)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Pes cavus (HP:0001761)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Weight loss (HP:0001824)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MCOLN1
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Hypergastrinemia (HP:0500167)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Ataxia (HP:0001251)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Dystonia (HP:0001332)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Absent speech (HP:0001344)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Absent speech (HP:0001344)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, LISCH EPITHELIAL (OMIM:620763)
Gene: MCOLN1
Phenotype: Achlorhydria (HP:0032448)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Abnormal abdomen morphology (HP:0001438)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Photophobia (HP:0000613)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Photophobia (HP:0000613)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Microdontia (HP:0000691)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Ganglioside accumulation (HP:0004345)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Ganglioside accumulation (HP:0004345)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CORNEAL DYSTROPHY, LISCH EPITHELIAL (OMIM:620763)
Gene: MCOLN1
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Band-shaped corneal dystrophy (HP:0007709)
Associated disease: CORNEAL DYSTROPHY, LISCH EPITHELIAL (OMIM:620763)
Gene: MCOLN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Abnormality of mucopolysaccharide metabolism (HP:0011020)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Abnormality of mucopolysaccharide metabolism (HP:0011020)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Strabismus (HP:0000486)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Strabismus (HP:0000486)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Mucolipidosis type IV (ORPHA:578)
Gene: MCOLN1
Phenotype: Visual impairment (HP:0000505)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: MCOLN1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: MUCOLIPIDOSIS IV (OMIM:252650)
Gene: ATP10A
Phenotype: Poor speech (HP:0002465)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Seizure (HP:0001250)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Ataxia (HP:0001251)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Polyphagia (HP:0002591)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Absent speech (HP:0001344)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Wide mouth (HP:0000154)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Drooling (HP:0002307)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Short attention span (HP:0000736)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Hyperorality (HP:0000710)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Obesity (HP:0001513)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ATP10A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: ADGRG6
Phenotype: Adducted thumb (HP:0001181)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Absence of stomach bubble on fetal sonography (HP:0010963)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Short umbilical cord (HP:0001196)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Ankylosis (HP:0031013)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Preeclampsia (HP:0100602)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Third trimester onset (HP:0034197)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Second trimester onset (HP:0034198)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Abnormality of the diaphragm (HP:0000775)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Myopathy (HP:0003198)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Elbow extension contracture (HP:0034393)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Congenital contracture (HP:0002803)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Low-set ears (HP:0000369)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Micrognathia (HP:0000347)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Triangular face (HP:0000325)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: ADGRG6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Gene: VANGL2
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Lipoma (HP:0012032)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Cleft lip (HP:0410030)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: VANGL2
Phenotype: Posterior pituitary agenesis (HP:0011756)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Thymus hyperplasia (HP:0010516)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: VANGL2
Phenotype: Abnormal facial skeleton morphology (HP:0011821)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Anencephaly (HP:0002323)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: VANGL2
Phenotype: Asymmetry of spinal facet joints (HP:0008482)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: VANGL2
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: VANGL2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Omphalocele (HP:0001539)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: VANGL2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: VANGL2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Maternal fever in pregnancy (HP:0030244)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Maternal fever in pregnancy (HP:0030244)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: VANGL2
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Hypoplasia of the frontal bone (HP:0005466)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: VANGL2
Phenotype: Proptosis (HP:0000520)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: TTC7A
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Congenital pulmonary airway malformation (HP:0010959)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Congenital pulmonary airway malformation (HP:0010959)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Interface hepatitis (HP:0032220)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Gastrointestinal atresia (HP:0002589)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Hematochezia (HP:0002573)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Abnormal ductus choledochus morphology (HP:0100889)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Death in childhood (HP:0003819)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: T-cell lymphoma (HP:0012190)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Hepatitis (HP:0012115)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)