TaoMedAI/RareMedData huggingface dataset:
Gene: KMT2D
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2D
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Aplasia of the thymus (HP:0005359)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Decreased proportion of CD4-positive memory T cells (HP:0410386)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Macrotia (HP:0000400)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Macrotia (HP:0000400)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Strabismus (HP:0000486)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Strabismus (HP:0000486)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Microcornea (HP:0000482)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Small nail (HP:0001792)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Anteverted nares (HP:0000463)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Choanal atresia (HP:0000453)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Choanal atresia (HP:0000453)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Wide nose (HP:0000445)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Single ventricle (HP:0001750)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Bulbous nose (HP:0000414)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Protruding ear (HP:0000411)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Protruding ear (HP:0000411)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Phimosis (HP:0001741)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Splenomegaly (HP:0001744)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Long eyelashes (HP:0000527)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2D
Phenotype: Telecanthus (HP:0000506)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Ptosis (HP:0000508)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Ptosis (HP:0000508)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Bilateral renal hypoplasia (HP:0012584)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Blue sclerae (HP:0000592)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Coloboma (HP:0000589)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Prominent forehead (HP:0011220)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: AAAS
Phenotype: Anisocoria (HP:0009916)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Ataxia (HP:0001251)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Ataxia (HP:0001251)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Dysarthria (HP:0001260)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Achalasia (HP:0002571)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Achalasia (HP:0002571)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Impaired cortisol response to corticotropin releasing hormone stimulation test (HP:0031078)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Hypotension (HP:0002615)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Vomiting (HP:0002013)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Abnormality of the hypothenar eminence (HP:0010486)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Babinski sign (HP:0003487)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Adrenocorticotropin receptor defect (HP:0008259)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Developmental regression (HP:0002376)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Progressive (HP:0003676)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Short stature (HP:0004322)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Short stature (HP:0004322)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Cough (HP:0012735)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Childhood onset (HP:0011463)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Young adult onset (HP:0011462)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Microcephaly (HP:0000252)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Microcephaly (HP:0000252)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Pes cavus (HP:0001761)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)