TaoMedAI/RareMedData huggingface dataset:
Gene: CUL4B
Phenotype: Synophrys (HP:0000664)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Cachexia (HP:0004326)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Hyperactivity (HP:0000752)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Gynecomastia (HP:0000771)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Emotional lability (HP:0000712)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Epicanthus (HP:0000286)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Kyphosis (HP:0002808)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Kyphosis (HP:0002808)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: High palate (HP:0000218)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Obesity (HP:0001513)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Short philtrum (HP:0000322)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Short neck (HP:0000470)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Short foot (HP:0001773)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Short foot (HP:0001773)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Prominent nose (HP:0000448)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Pes cavus (HP:0001761)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Pes cavus (HP:0001761)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Sandal gap (HP:0001852)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Sandal gap (HP:0001852)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)
Gene: CUL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)
Gene: CUL3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Pseudohypoaldosteronism (HP:0008242)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)
Gene: CUL3
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Absent thumb (HP:0009777)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)
Gene: CUL3
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)
Gene: CUL3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Hyperchloremia (HP:0011423)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)
Gene: CUL3
Phenotype: Hypertension (HP:0000822)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)
Gene: CUL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: CUL3
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Gene: FOXN1
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY (OMIM:601705)
Gene: FOXN1
Phenotype: Sepsis (HP:0100806)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Meningitis (HP:0001287)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY (OMIM:601705)
Gene: FOXN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT (OMIM:618806)
Gene: FOXN1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT (OMIM:618806)
Gene: FOXN1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Nude/severe combined immunodeficiency; Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; Alymphoid cystic thymic dysgenesis; Nude/SCID; Winged helix deficiency; Severe combined immunodeficiency due to FOXN1 deficiency; SCID due to FOXN1 deficiency (ORPHA:169095)
Gene: FOXN1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Pneumonia (HP:0002090)
Associated disease: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT (OMIM:618806)
Gene: FOXN1
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT (OMIM:618806)
Gene: FOXN1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY (OMIM:601705)
Gene: FOXN1
Phenotype: Atypical or prolonged hepatitis (HP:0200122)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT (OMIM:618806)
Gene: FOXN1
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Invasive fungal infection (HP:0020101)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Severe infection (HP:0032169)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Congenital alopecia totalis (HP:0005597)
Associated disease: Nude/severe combined immunodeficiency; Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; Alymphoid cystic thymic dysgenesis; Nude/SCID; Winged helix deficiency; Severe combined immunodeficiency due to FOXN1 deficiency; SCID due to FOXN1 deficiency (ORPHA:169095)
Gene: FOXN1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Alopecia (HP:0001596)
Associated disease: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY (OMIM:601705)
Gene: FOXN1
Phenotype: Decreased proportion of naive T cells (HP:0031397)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Oligoclonal T cell expansion (HP:0031430)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Aplasia of the thymus (HP:0005359)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Severe T-cell immunodeficiency (HP:0005352)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Severe T-cell immunodeficiency (HP:0005352)
Associated disease: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY (OMIM:601705)
Gene: FOXN1
Phenotype: Recurrent streptococcus pneumoniae infections (HP:0005366)
Associated disease: Isolated thymic defect due to thymic aplasia/hypoplasia; T-cell immunodeficiency with thymic aplasia; Nezelof syndrome; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia (ORPHA:83471)
Gene: FOXN1
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT (OMIM:618806)