Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Lipoid Congenital Adrenal Hyperplasia |
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Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Hyperaldosteronism, Familial, Type Iii |
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Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Late-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
Glucocorticoid Deficiency 5 |
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Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Cleidocranial Dysplasia, Recessive Form |
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Brachycephaly |
OMIM:216330 |
Early-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Familial Hyperaldosteronism Type Iii |
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Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Primary Unilateral Adrenal Hyperplasia |
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Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Periodic Fever, Menstrual Cycle-Dependent |
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Increased circulating cortisol level |
OMIM:614674 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
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Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Acth Deficiency, Isolated |
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Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
Glucocorticoid Deficiency 2 |
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Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Crouzon Syndrome With Acanthosis Nigricans |
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Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Non-Syndromic Bicoronal Craniosynostosis |
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Brachycephaly, Midface retrusion |
ORPHA:35099 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
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Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Adrenocortical Carcinoma |
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Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Sporadic Fetal Brain Disruption Sequence |
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Prominent occiput, Plagiocephaly |
ORPHA:1665 |
Craniosynostosis 6 |
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Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... |
OMIM:616602 |
Joubert Syndrome 15 |
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Exencephaly |
OMIM:614464 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Adrenal gland agenesis |
OMIM:611812 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... |
ORPHA:90796 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis |
OMIM:618736 |
Craniofacial Dyssynostosis With Short Stature |
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Frontal bossing, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly,... |
OMIM:218350 |
Apparent Mineralocorticoid Excess |
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Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Craniosynostosis 2 |
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Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... |
OMIM:604757 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Flat occiput, Exencephaly, Brachycephaly |
ORPHA:2211 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... |
ORPHA:99889 |
Achard Syndrome |
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Broad skull, Brachycephaly |
OMIM:100700 |
Hemimegalencephaly |
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Cranial asymmetry |
ORPHA:99802 |
Tetraamelia Syndrome 1 |
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Adrenal gland agenesis |
OMIM:273395 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Hydrolethalus Syndrome 1 |
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Adrenal gland dysgenesis |
OMIM:236680 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
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Cranial asymmetry |
ORPHA:137634 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Hydrocephalus, Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
Doors Syndrome |
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Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
Arthrogryposis, Distal, Type 4 |
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Torticollis, Cranial asymmetry |
OMIM:609128 |
Holoprosencephaly 7 |
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Frontal bossing, Flat occiput, Alobar holoprosencephaly, Hydrocephalus, Cranial asymmetry, Lobar ... |
OMIM:610828 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Cranial asymmetry |
OMIM:163200 |
African Trypanosomiasis |
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Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... |
ORPHA:3385 |
Wiedemann-Rautenstrauch Syndrome |
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Frontal bossing, Tremor, Hydrocephalus, Cranial asymmetry, Thickened calvaria, Action tremor |
ORPHA:3455 |