Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Papi... |
OMIM:145001 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Solitary Fibrous Tumor |
|
Vaginal neoplasm, Soft tissue neoplasm, Reduced C-peptide level, Genital neoplasm, Neoplasm of th... |
ORPHA:2126 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... |
ORPHA:276152 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Renal cell carcinoma, Uterine leiomyoma,... |
OMIM:150800 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Fibroma, Primary ... |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Fibroma, Primary ... |
ORPHA:143 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... |
ORPHA:97289 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Diffuse Neonatal Hemangiomatosis |
|
Visceral angiomatosis, Abnormal vagina morphology, Hypercalcemia, Hemangiomatosis |
ORPHA:2123 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia |
ORPHA:2668 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 level, Elevated circulat... |
ORPHA:370348 |
Familial Adenomatous Polyposis 4 |
|
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Hyperhidrosis, Neoplasm of the lung... |
ORPHA:1332 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... |
ORPHA:480536 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... |
OMIM:612089 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis |
OMIM:145980 |
Colorectal Cancer |
|
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder |
OMIM:114500 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... |
OMIM:203330 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Muir-Torre Syndrome |
|
Endometrial carcinoma, Renal neoplasm, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... |
ORPHA:587 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypopl... |
OMIM:614732 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal circul... |
ORPHA:2238 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... |
OMIM:131100 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... |
ORPHA:220460 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Hypercalcemia, Gingival ... |
ORPHA:2591 |
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
|
Primary hyperparathyroidism |
OMIM:600166 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Parathyroid hyp... |
OMIM:617994 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... |
ORPHA:2239 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Granulomatous Slack Skin |
|
Lymphoma, Hypercalcemia, Hodgkin lymphoma |
ORPHA:33111 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Pancreatitis |
OMIM:145981 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Elevated circ... |
ORPHA:249 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... |
ORPHA:157798 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Precocious pub... |
OMIM:175200 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Pseudo... |
OMIM:612462 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
OMIM:264700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Primary hyperparathyroidism, Hypermagnesemia... |
OMIM:600740 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske... |
ORPHA:653 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Hypercalcemia, Sarcoma |
ORPHA:69077 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Hypothyroidism, Breast hypo... |
ORPHA:1439 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Micrognathia, Visceral angiomatosis, Lymphoma, Hamartomatous poly... |
ORPHA:109 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Hyperphosphatemia, Elevated circulating thyroid-stimulati... |
ORPHA:94086 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Elevated circulating parathyroid hormone level, Seconda... |
OMIM:277440 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Grfoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... |
ORPHA:97261 |
Ppoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... |
ORPHA:97278 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... |
OMIM:603233 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi... |
OMIM:618117 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism |
OMIM:618107 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Hypocalcemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Calvarial osteos... |
ORPHA:93324 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Soft tissue sarcoma, Adrenocortical carcinoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia, Bladder neoplasm |
ORPHA:284400 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
ORPHA:289157 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97283 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia, Hyperhidrosis |
OMIM:171420 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619665 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
OMIM:239200 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... |
ORPHA:199299 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Cryptor... |
ORPHA:2323 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia |
OMIM:617671 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Germ cell neoplasia, Elevat... |
ORPHA:90797 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... |
OMIM:615723 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... |
ORPHA:755 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... |
ORPHA:85138 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Episodic hyperhidrosis, Hypercalcemia, Paraganglioma |
ORPHA:94080 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho... |
OMIM:617690 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma |
OMIM:612591 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Hypopl... |
OMIM:614841 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Enamel hypoplasia, Retrognathia, Hypocalcemia |
ORPHA:557003 |
Hypoparathyroidism, X-Linked |
|
Congenital hypoparathyroidism |
OMIM:307700 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97280 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Micrognathia, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Hypothy... |
OMIM:240300 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development |
OMIM:618078 |
Lynch Syndrome 8 |
|
Endometrial carcinoma |
OMIM:613244 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hyperca... |
ORPHA:29072 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Hypercalcemia, Hypothyroidism, Hypocalcemia |
OMIM:618440 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Uterine leiomyoma, Exostoses |
OMIM:616482 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Pheochromocytoma |
|
Hypercalcemia, Hyperhidrosis, Neoplasm, Pheochromocytoma, Hemangioma |
OMIM:171300 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Calvarial osteosclerosis |
OMIM:244460 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism |
OMIM:618188 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... |
ORPHA:276621 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Hypoammonemia, Micrognathia, Hyponatremia, Abnormal d... |
ORPHA:534 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... |
ORPHA:201 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... |
ORPHA:276399 |
Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619203 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia, Hypohidrosis |
ORPHA:1563 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... |
ORPHA:36913 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Micrognathia |
ORPHA:2604 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty |
OMIM:300510 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Mandibular prognathia, Endometrial carcinoma, Breast carcinoma, Melanoma, Hypothyroidism |
ORPHA:457212 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone lev... |
OMIM:103580 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Abnormal circulating ho... |
ORPHA:314478 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Abnormal circulating follicle-stimulating hormone co... |
ORPHA:93325 |
Progressive Familial Intrahepatic Cholestasis |
|
Neoplasm, Hypocalcemia |
ORPHA:172 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Abnormality of iron h... |
ORPHA:231222 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Micrognathia, Precocious puberty, Renal ... |
ORPHA:369837 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Abnormal dental enamel morphology, Hypercalcemia, Increased blood urea nitrogen, Dela... |
ORPHA:251004 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... |
ORPHA:2975 |
Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... |
OMIM:615363 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Pse... |
ORPHA:94089 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Adrenal hypoplasia, Hyperkalem... |
ORPHA:95409 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Alpha-Heavy Chain Disease |
|
Lymphoma, Hypocalcemia |
ORPHA:100025 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... |
ORPHA:157794 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia |
OMIM:266810 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti... |
ORPHA:231632 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonadism, Decreased response to grow... |
ORPHA:273 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Hydatidiform Mole |
|
Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test |
OMIM:606407 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Elevated circulating thyroid-st... |
OMIM:618183 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Subcutaneous lipoma, Micrognathia, Hypoplasia of the maxilla, Fibroadenoma of th... |
OMIM:158350 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to grow... |
ORPHA:79444 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Adrenal insufficiency, Abnormality of ir... |
ORPHA:231226 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypocalcemi... |
ORPHA:1655 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Persistence of primary teeth, H... |
ORPHA:2785 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Adrenal hypoplasia, Acute myeloid leukemia, Myelodysplasia |
OMIM:619151 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Retrognathia, Hypocalcemia |
OMIM:192430 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ... |
ORPHA:79445 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Eruption failure, Hypercalcemia, Micrognathia |
ORPHA:476126 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ... |
ORPHA:90794 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Pancreatitis, Hypocalcemic seizures |
ORPHA:405 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Adrenal insufficiency, Abnormality of ir... |
ORPHA:231214 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration |
ORPHA:50810 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Monosomy 13Q34 |
|
Hypercalcemia, Micrognathia |
ORPHA:96168 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Hypocalcemia |
ORPHA:3426 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Abnormality of the thy... |
ORPHA:209905 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Decreased ... |
OMIM:615300 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm |
ORPHA:2221 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Hypophosphat... |
ORPHA:352540 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency |
OMIM:530000 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612463 |
Gardner Syndrome |
|
Brain neoplasm, Astrocytoma, Papillary thyroid carcinoma, Prostate cancer, Hepatoblastoma, Fibros... |
ORPHA:79665 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Hypoparathyroidism |
ORPHA:496756 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Micrognathia |
OMIM:601076 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to grow... |
ORPHA:79443 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Delayed eruption of teeth, Hypospadias, Micrognathia, Cryptorchidism, Lymphom... |
ORPHA:235 |
Hamamy Syndrome |
|
Hypoparathyroidism, Micrognathia, Cryptorchidism, Dental malocclusion, Enamel hypoplasia |
OMIM:611174 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism |
OMIM:247410 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Ovarian gonadoblastoma |
OMIM:136680 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia |
ORPHA:746 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia... |
OMIM:235255 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Retrognathia, Pseudohypoparathyroidism |
ORPHA:464288 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula... |
ORPHA:90796 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... |
ORPHA:227982 |
Fanconi Anemia, Complementation Group S |
|
Dental malocclusion, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatinine concentration, Agon... |
OMIM:154230 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Cholelithiasis, Increased glucagon level, Glucagonoma |
ORPHA:438274 |
Intermediate Osteopetrosis |
|
Osteosclerosis of the base of the skull, Dental malocclusion, Hypocalcemia |
ORPHA:210110 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Micrognathia |
ORPHA:1438 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Hamartomatous polyposis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Refractory Celiac Disease |
|
Hypomagnesemia, Lymphoma, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... |
ORPHA:699 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Increased serum t... |
ORPHA:247768 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Mandibular osteomyelitis, Hypocalcemia |
ORPHA:53 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... |
ORPHA:550 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormal dental enamel morphology, Malar flatte... |
ORPHA:567 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Neoplasm, Hypocalcemia |
ORPHA:47 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland, Micrognathia |
ORPHA:3429 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... |
ORPHA:1359 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovari... |
ORPHA:2969 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Celiac Disease, Susceptibility To, 1 |
|
Lymphoma, Thyroiditis, Hypocalcemia, Delayed puberty, Type I diabetes mellitus, Enamel hypoplasia |
OMIM:212750 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Hemangioma, A... |
ORPHA:83628 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Bifid uterus |
ORPHA:2736 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis |
OMIM:607143 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Ovarian ne... |
ORPHA:902 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... |
ORPHA:904 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... |
OMIM:241080 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Diffuse leiomyomatosis |
OMIM:301050 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Hypercalcemia, Phimosis, Cryptorchidism, Small... |
ORPHA:821 |
Wilson Disease |
|
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbumine... |
OMIM:277900 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Eruption failure, Papillary thy... |
ORPHA:733 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Delayed puberty, Hypermagnesemia, Hyperhidrosis, Dia... |
ORPHA:358 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Micrognathia, A... |
ORPHA:1052 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Primary Intestinal Lymphangiectasia |
|
Disseminated cutaneous warts, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Abnormal reproductive system morphology, Enla... |
ORPHA:797 |
Gracile Bone Dysplasia |
|
Micropenis, Hypocalcemia |
OMIM:602361 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic frontal sinuses, Hypoc... |
OMIM:300712 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Calvarial osteosclerosis, Hypocalcemia |
OMIM:259700 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Breast carcinoma, Melanoma, Ovarian carcinoma, Exoc... |
ORPHA:1333 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased respons... |
OMIM:214800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Abnormal blood ion concentration, Thyroidit... |
ORPHA:37042 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous ge... |
OMIM:619879 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Renal cyst, Ov... |
OMIM:614527 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Fibrous syngnathia, Hypop... |
OMIM:119500 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Hypercalcemia, Dental malocclusion, Early onset of sexual maturation, Malar fl... |
OMIM:194050 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Neuroendocrine Neoplasm Of Appendix |
|
Primary hypercortisolism, Adrenocorticotropic hormone excess, Ovarian neoplasm, Intestinal carcin... |
ORPHA:100079 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperhidrosis, Hy... |
ORPHA:94093 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Elevated circulating creati... |
OMIM:137920 |
Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Micrognathia, Parathyroid ... |
OMIM:188400 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Hypocalcemia |
OMIM:618476 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Capillary hemangioma, Hypocalcemia, Hyperbilirub... |
ORPHA:163979 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Micrognathia, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Micrognathia |
ORPHA:3320 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Pontocerebellar Hypoplasia Type 7 |
|
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent... |
ORPHA:284339 |
Limb-Mammary Syndrome |
|
Absent nipple, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Ap... |
ORPHA:69085 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Conjugated hyperbilirubin... |
OMIM:243800 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Adrenocortical cytomegaly, Nephroblastoma, Rhabdomyosarcoma, Elevated circ... |
ORPHA:116 |
Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Delayed eruption of teeth, Supernumerary tooth, Hy... |
ORPHA:2136 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Bi... |
OMIM:619991 |
Apert Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth, Ovarian neoplasm |
ORPHA:87 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Micrognathia |
OMIM:259720 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus, Micrognathia |
ORPHA:2879 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Thyroiditis, Hypocalcemic tetany, Hypothyroidism |
ORPHA:83471 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia, Micrognathia |
ORPHA:2306 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Delayed eruption of teeth, Decreased response to growth hormone stimulatio... |
OMIM:619503 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Hypoalbuminemia, Bile duct proliferation, Hypocalcemia, Unconjugated hyperbilirubi... |
OMIM:613658 |
Microsporidiosis |
|
Sinusitis, Abnormality of the parathyroid gland, Abnormal endometrium morphology, Thyroiditis, Ab... |
ORPHA:2552 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Atypical Werner Syndrome |
|
Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Micrognathia, Abnormal circulating lepti... |
ORPHA:79474 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:572333 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Pancreatitis |
ORPHA:544482 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Micrognathia |
OMIM:614083 |
Cranioectodermal Dysplasia 1 |
|
Enamel hypoplasia, Hypocalcemia, Hepatic cysts |
OMIM:218330 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Micrognathia, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology |
OMIM:236680 |
Exercise-Induced Malignant Hyperthermia |
|
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, ... |
ORPHA:466650 |
Proteus Syndrome |
|
Neoplasm of the thymus, Renal cyst, Neoplasm of the central nervous system, Neoplasm, Capillary h... |
ORPHA:744 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Pancreatic cysts, Facial capillary hemangioma, Aplasia of the uterus, Malar flattening |
OMIM:274000 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Malar flattening, Small scrotum, Hypocalcemia |
OMIM:620330 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Loeys-Dietz Syndrome |
|
Malar flattening, Micrognathia, Uterine rupture |
ORPHA:60030 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Micrognathia, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hemangioma,... |
OMIM:194190 |
Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Uterine rupture, Delayed puberty, Malar flattening, Neoplasm o... |
ORPHA:649 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Renal hypophosphatemia, Hypophosphatemic rickets, Hypocalcemic tetany,... |
ORPHA:289176 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Hypospadias, Cryptorchidism, Aplasia of the uterus, Hemangioma, Retrog... |
OMIM:135900 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Bifid uterus, Cr... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Micrognathia, Bifid uterus |
OMIM:256520 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Malar flattening, Retrognathia, Pseudohypoparathyroidism |
OMIM:617157 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Carious teeth, Cryptorchidism, Cystocele, Hypokalemia, Uterine rupture, Uterine prol... |
ORPHA:286 |
Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Anhidrosis, Small scrotum, Hypospadias, Supernumerary nipple, Microgna... |
OMIM:601803 |