TaoMedAI/RareMedData huggingface dataset:
Gene: KDM1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Enlarged cerebellum (HP:0012081)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Moon facies (HP:0500011)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Constipation (HP:0002019)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Syringomyelia (HP:0003396)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Tethered cord (HP:0002144)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Clonus (HP:0002169)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Macronodular adrenal hyperplasia (HP:0008231)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Narrow nasal tip (HP:0011832)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Mania (HP:0100754)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Plethora (HP:0001050)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Striae distensae (HP:0001065)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Acne (HP:0001061)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Hirsutism (HP:0001007)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Memory impairment (HP:0002354)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Neuroendocrine neoplasm (HP:0100634)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Short thumb (HP:0009778)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Short thumb (HP:0009778)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Synophrys (HP:0000664)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Synophrys (HP:0000664)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Increased body weight (HP:0004324)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Short stature (HP:0004322)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Depression (HP:0000716)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Emotional lability (HP:0000712)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Hypertension (HP:0000822)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Alopecia (HP:0001596)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Meningioma (HP:0002858)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Colpocephaly (HP:0030048)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Strabismus (HP:0000486)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Strabismus (HP:0000486)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)