TaoMedAI/RareMedData huggingface dataset:
Gene: MYOD1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Proptosis (HP:0000520)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Telecanthus (HP:0000506)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Esotropia (HP:0000565)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: PPP1R12A
Phenotype: Syndactyly (HP:0001159)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Aplasia of the nasal bone (HP:0010941)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Chordee (HP:0000041)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Micropenis (HP:0000054)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Joint stiffness (HP:0001387)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Hypospadias (HP:0000047)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Streak ovary (HP:0010464)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Chiari malformation (HP:0002308)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Short nose (HP:0003196)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Acrania (HP:0030716)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Epicanthus (HP:0000286)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Long face (HP:0000276)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Omphalocele (HP:0001539)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Colpocephaly (HP:0030048)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Flat face (HP:0012368)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Jejunal atresia (HP:0005235)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Low-set ears (HP:0000369)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Long philtrum (HP:0000343)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Micrognathia (HP:0000347)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Astigmatism (HP:0000483)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Strabismus (HP:0000486)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Ileal atresia (HP:0011102)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Protruding ear (HP:0000411)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Ptosis (HP:0000508)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Visual impairment (HP:0000505)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: PPP1R12A
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Gene: NAB2
Phenotype: Abnormal peritoneum morphology (HP:0002585)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Abnormal prostate morphology (HP:0008775)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Urinary retention (HP:0000016)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Neoplasm (HP:0002664)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Prostate cancer (HP:0012125)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Constipation (HP:0002019)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Neoplasia of the pleura (HP:0100527)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Low back pain (HP:0003419)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Genital neoplasm (HP:0010787)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Diplopia (HP:0000651)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Fever (HP:0001945)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Abnormal forehead morphology (HP:0000290)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Pelvic mass (HP:0031501)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Fatigue (HP:0012378)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Soft tissue neoplasm (HP:0031459)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Night sweats (HP:0030166)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAB2
Phenotype: Weight loss (HP:0001824)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: NAGA
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Seizure (HP:0001250)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Seizure (HP:0001250)
Associated disease: NAGA deficiency type 3; Alpha-N-acetylgalactosaminidase deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Gene: NAGA
Phenotype: Seizure (HP:0001250)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Hypotonia (HP:0001252)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NAGA deficiency type 3; Alpha-N-acetylgalactosaminidase deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Gene: NAGA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NAGA deficiency type 3; Alpha-N-acetylgalactosaminidase deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Gene: NAGA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Spasticity (HP:0001257)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Spasticity (HP:0001257)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Telangiectasia of the oral mucosa (HP:0007428)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Telangiectasia of the oral mucosa (HP:0007428)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Lacunar stroke (HP:0032325)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Myoclonus (HP:0001336)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Myoclonus (HP:0001336)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Increased urinary O-linked sialopeptides (HP:0003461)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Increased urinary O-linked sialopeptides (HP:0003461)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Paresthesia (HP:0003401)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Infantile onset (HP:0003593)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NAGA deficiency type 3; Alpha-N-acetylgalactosaminidase deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Gene: NAGA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Adult onset (HP:0003581)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Developmental regression (HP:0002376)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Lymphedema (HP:0001004)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Lymphedema (HP:0001004)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Lymphedema (HP:0001004)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Vertigo (HP:0002321)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Vertigo (HP:0002321)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Vertigo (HP:0002321)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Papule (HP:0200034)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Angiokeratoma corporis diffusum (HP:0001071)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Angiokeratoma corporis diffusum (HP:0001071)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: White mater abnormalities in the posterior periventricular region (HP:0006812)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Nystagmus (HP:0000639)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Autism (HP:0000717)
Associated disease: NAGA deficiency type 3; Alpha-N-acetylgalactosaminidase deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Gene: NAGA
Phenotype: Autism (HP:0000717)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Reduced tissue alpha-N-acetylgalactosaminidase activity (HP:4000202)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)