Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... |
OMIM:614837 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:616030 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Galactorrhea, Female infertility, Menorrhagia, Oli... |
OMIM:615555 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Breast carcinoma, Colorectal polyposis, Bladder carcinoma, Prostate ca... |
ORPHA:157798 |
Maffucci Syndrome |
|
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... |
ORPHA:163634 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Breast carcinoma, Abnormal fallopian tube morphology, Prostate cancer, Neoplasm of the pancreas, ... |
ORPHA:145 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension, Abnormality of secondary sexual hair, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Alopecia, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:453533 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
Thyroid Cancer, Nonmedullary, 4 |
|
Prostate cancer, Basal cell carcinoma, Papillary thyroid carcinoma, Goiter, Ovarian neoplasm |
OMIM:616534 |
46,Xy Partial Gonadal Dysgenesis |
|
Gonadoblastoma, Ambiguous genitalia, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Ring Chromosome Y Syndrome |
|
Gonadoblastoma, Ambiguous genitalia, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614839 |
Werner Syndrome |
|
Premature graying of hair, Abnormal testis morphology, Melanoma, White forelock, Neoplasm, Abnorm... |
ORPHA:902 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... |
OMIM:202150 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Increased serum testosterone level, Diffuse leiomyomatosis, Abnormal circulating ho... |
ORPHA:314478 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia, Squamous cell carcinoma, Basa... |
ORPHA:50944 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian carcinoma |
OMIM:613399 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... |
OMIM:619761 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... |
ORPHA:2235 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Neoplasm of the re... |
ORPHA:2221 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Absent nipple, Hypoplastic areola, Male urethral meatus stenosis, Cryptorchidism, Hypoplastic nip... |
OMIM:616001 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Hamartoma, Visceral angiomatosis, Congestive heart failure, Neoplasm of the thyroid gland, Lympha... |
ORPHA:137608 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Meningioma |
|
Enlarged pituitary gland, Impotence, Spinal meningioma, Decreased circulating cortisol level, Neo... |
ORPHA:2495 |
Non-Functioning Pituitary Adenoma |
|
Hypotension, Impotence, Anterior hypopituitarism, Decreased female libido, Adrenal insufficiency,... |
ORPHA:91349 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Weight loss, Neoplasm of the pancreas, Spinal cord tumor, Abnormal bleeding, ... |
ORPHA:370348 |
Carney Complex |
|
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellul... |
ORPHA:1359 |
Subependymoma |
|
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... |
ORPHA:251636 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Urinary tract neoplasm,... |
ORPHA:144 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Alopecia, Precocious puberty, Goiter, Hyperthyroidism, Abnormal testis mo... |
ORPHA:457059 |
Familial Colorectal Cancer Type X |
|
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Stomach cancer, Urinary... |
ORPHA:440437 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Nephroblastoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovaria... |
OMIM:180295 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Galactorrhea, Menorrhagia, Oligomenor... |
ORPHA:397685 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Wide intermamillary distance, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Labial hypoplasia, Sparse pubic hair, Absent facial hair, Elevated circulat... |
OMIM:300068 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the central nervous system, Weight loss, Neoplasm of the lung, Sarcoma, Neoplasm of t... |
ORPHA:83469 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Frasier Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea |
OMIM:136680 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
46,Xy Sex Reversal 6 |
|
Gonadoblastoma, Dysgerminoma, Sex reversal, Sparse axillary hair, Hypospadias, Hirsutism, Gonadal... |
OMIM:613762 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Familial Multinodular Goiter |
|
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Hyperthyroidism, Colorectal ... |
ORPHA:276399 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Hypohidrosis, Aplasia of the ovary, Absent nipple, Breast aplasia, Apla... |
ORPHA:69085 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Aplasia/Hypoplasia of the nipples, Absent nipple, Hypoplastic areola, Aplasia/Hypoplasia of the b... |
OMIM:113700 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... |
OMIM:612964 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Fanconi Anemia, Complementation Group S |
|
Breast carcinoma, Long eyelashes, Failure to thrive, Ovarian carcinoma, Sparse hair, Low anterior... |
OMIM:617883 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased testicular size, Decreased serum testosterone concentration,... |
OMIM:614841 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
46,Xy Sex Reversal 11 |
|
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... |
OMIM:273250 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Absent pubic hair, Blind vagina, Primary amenorrhea, Testicul... |
ORPHA:99429 |
Cowden Syndrome 1 |
|
Breast carcinoma, Hypothyroidism, Hyperthyroidism, Gynecomastia, Thyroiditis, Fibroadenoma of the... |
OMIM:158350 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Muir-Torre Syndrome |
|
Breast carcinoma, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genitourinary tract tumor,... |
OMIM:158320 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypogonadism, Hypoplastic areola, Arrhythmia, Hypoplastic nipples, Sparse hair |
OMIM:273400 |
Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Decreased circulating re... |
ORPHA:231632 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Gangliocytoma |
|
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Neoplasm of the central nervous sys... |
ORPHA:251937 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Decreased fertility, Hypogonadism, Supernumerary nipple, Hypogonadotropic hypogonadism, Abnormali... |
ORPHA:1173 |
Sheehan Syndrome |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:91355 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
46,Xy Sex Reversal 10 |
|
Gonadoblastoma, Ambiguous genitalia, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... |
OMIM:616425 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... |
ORPHA:2410 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelashes, Anhidrosis, Absent... |
OMIM:614941 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
46,Xy Sex Reversal 1 |
|
Gonadoblastoma, Ambiguous genitalia, Abnormality of female external genitalia, Sex reversal, Abse... |
OMIM:400044 |
46,Xx Gonadal Dysgenesis |
|
Primary amenorrhea, Abnormality of secondary sexual hair, Decreased fertility, Ambiguous genitali... |
ORPHA:243 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair, Hypogonadism, Decreased testicular size, Small for gestational age, Decreased s... |
OMIM:300869 |
Non-Acquired Panhypopituitarism |
|
Hypotension, Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased respo... |
ORPHA:90695 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Ane Syndrome |
|
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, A... |
ORPHA:157954 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
Frasier Syndrome |
|
Nephroblastoma, Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Hypertensio... |
ORPHA:347 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Li-Fraumeni Syndrome 2 |
|
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma |
OMIM:609265 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent hair, Hypohidrosis, Brittle hair, Anhidrosis, Absent nipple, Sparse hair |
OMIM:614940 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Perrault Syndrome 4 |
|
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... |
OMIM:615300 |
Adult Syndrome |
|
Sparse scalp hair, Fair hair, Wide intermamillary distance, Sparse axillary hair, Absent nipple, ... |
OMIM:103285 |
Lynch Syndrome 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Endometrial carcinoma, Ov... |
OMIM:614350 |
Pituitary Apoplexy |
|
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... |
ORPHA:95613 |
Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Hyperostosis Frontalis Interna |
|
Irregular menstruation, Increased circulating prolactin concentration, Galactorrhea, Diabetes mel... |
OMIM:144800 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Sparse b... |
ORPHA:90796 |
46,Xx Testicular Disorder Of Sex Development |
|
Decreased testicular size, Polycystic ovaries, Ambiguous genitalia, Male hypogonadism |
ORPHA:393 |
Adult Syndrome |
|
Alopecia, Sparse scalp hair, Absent nipple, Fine hair, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Micropenis |
OMIM:618021 |
Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased body weight, Decreased serum e... |
OMIM:616185 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... |
ORPHA:247768 |
X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... |
ORPHA:163976 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
Ollier Disease |
|
Precocious puberty, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, He... |
ORPHA:296 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Basal cell c... |
ORPHA:314473 |
Neuroendocrine Neoplasm Of Appendix |
|
Ileal adenocarcinoma, Hypotension, Adrenocorticotropic hormone excess, Adenocarcinoma of the colo... |
ORPHA:100079 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Sparse axillary hair, Infertility, Sparse pubic ha... |
OMIM:146110 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Breast carcinoma, Weight loss, Neoplasm of the liver, Melanoma, Diabet... |
ORPHA:1333 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
Barber-Say Syndrome |
|
Inverted nipples, Sparse eyebrow, Absent nipple, Hypoplastic labia majora, Hypoplastic labia mino... |
OMIM:209885 |
Ulnar-Mammary Syndrome |
|
Decreased fertility, Hypoplasia of penis, Breast aplasia, Obesity, Abnormality of the uterus, Arr... |
ORPHA:3138 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Lhermitte-Duclos Disease |
|
Neoplasm of the thyroid gland, Trichilemmoma, Fibroadenoma of the breast, Ovarian neoplasm |
ORPHA:65285 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Breast carcinoma, Abnormal testis morphology, Premature ovarian i... |
ORPHA:1916 |
Atypical Werner Syndrome |
|
Decreased body weight, Abnormal testis morphology, Premature graying of hair, Neoplasm of the ski... |
ORPHA:79474 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Irregular menstruation, Sparse scalp hair, Absent eyelashes, Supernumerary nipp... |
ORPHA:1809 |
Progressive Osseous Heteroplasia |
|
Sarcoma, Abnormality of the parathyroid gland |
ORPHA:2762 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Fontaine Progeroid Syndrome |
|
Pulmonary arterial hypertension, Sparse scalp hair, Neonatal death, Death in infancy, Small for g... |
OMIM:612289 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea, Obesity, Amenorrhea |
OMIM:184700 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... |
OMIM:618187 |
Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Absent nipple, Abnormality of the breast, Uterus didelphys |
OMIM:200980 |
Denys-Drash Syndrome |
|
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous... |
OMIM:194080 |
49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Decreased tes... |
ORPHA:261534 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... |
ORPHA:163971 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse body hair, Sparse eyebrow, Hypohidrosis, Brittle hair, Absent eyelashes, Anhidrosis, Absen... |
OMIM:305100 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... |
ORPHA:785 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Menorrhagia, Oligomenorrhea, Abnormality... |
ORPHA:2795 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... |
OMIM:110100 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:66628 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Increased circulating prolactin concentration, Precocious puberty, Decreased respons... |
ORPHA:91354 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha... |
ORPHA:91 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea |
ORPHA:1643 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea, Obesity |
OMIM:604931 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... |
OMIM:619975 |
Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... |
ORPHA:2232 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... |
OMIM:300510 |
Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... |
OMIM:613038 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:179494 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased respo... |
ORPHA:95494 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Alopecia universalis, Abnormality of the uterus, Hypoplasia of the ovar... |
ORPHA:3130 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Hypothalamic hamartoma, Isosexual precocious puberty, Prema... |
ORPHA:759 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Hypohidrosis, Hypoplastic nipples, Breast hypoplasia, Abnormality of the endocrine system |
OMIM:129550 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233400 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Prolactinoma |
|
Hypotension, Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormo... |
ORPHA:2965 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Wide intermamillary distance, Primary amenorrhea, Hypoplasia of the uterus, Sparse bod... |
ORPHA:432 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple |
OMIM:104350 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
Legius Syndrome |
|
Nephroblastoma, Multiple lipomas, Paroxysmal atrial tachycardia, Neoplasm of the central nervous ... |
ORPHA:137605 |
Martin-Probst Syndrome |
|
Hypothyroidism, Telangiectasia, Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Hypo... |
OMIM:300519 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Fine hair, Ungual fibroma, Sparse hair, Sparse or absent eyelashes |
ORPHA:1433 |
Scarf Syndrome |
|
Perineal hypospadias, Bifid scrotum, Hepatocellular adenoma, Wide intermamillary distance, Crypto... |
ORPHA:3134 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
Steinert Myotonic Dystrophy |
|
Impotence, Secondary hyperparathyroidism, Neoplasm of the skin, Ovarian carcinoma, Non-medullary ... |
ORPHA:273 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Weight loss, Sarcoma, Neoplasm of the liver, Hypertension... |
ORPHA:69077 |
Becker Nevus Syndrome |
|
Abnormality of the scrotum, Hamartoma, Hypoplastic labia minora, Supernumerary nipple, Aplasia/Hy... |
ORPHA:64755 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98754 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Branchioskeletogenital Syndrome |
|
Synophrys, Absent external genitalia, Absent nipple, Penoscrotal hypospadias, Highly arched eyebr... |
ORPHA:1299 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... |
ORPHA:572333 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... |
OMIM:618841 |
Ichthyosis With Confetti |
|
Hypoplastic nipples, Decreased body weight, Hypertrichosis |
OMIM:609165 |
Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypoplastic female external genitalia, Hypospadias, Hypoplastic nipples |
OMIM:177980 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Papilloma, Stomach cancer, Astrocytoma, Colorectal polyposis, Multiple gastric polyps, Neoplasm o... |
ORPHA:480536 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Small for gestational age, Thin eyebrow, Supernumerary nipple, Cryptorchidism |
OMIM:617635 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Infantile Myofibromatosis |
|
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... |
ORPHA:2591 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98793 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Externa... |
ORPHA:99330 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Pituitary Gigantism |
|
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Galactor... |
ORPHA:99725 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hypotension, Impotence, Decreased female libido, Ventricular arrhythmia... |
ORPHA:91347 |
Nipples, Supernumerary |
|
Supernumerary nipple |
OMIM:163700 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177904 |
Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Diabetes insipidus, Death in infancy, Hypoplasia of penis, Ectopic posterior pitu... |
ORPHA:95496 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177901 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Acquired Ichthyosis |
|
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm |
ORPHA:454 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Supernumerary nipple, Cryptorchidism |
OMIM:619243 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... |
ORPHA:739 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... |
ORPHA:232 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Gastrointestinal hemorrhage, Neoplasm of the oral cavity |
ORPHA:543 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... |
ORPHA:168558 |
19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Bifid scrotum, Wide intermamillary distance, Cachexia, Supernumerary nipp... |
ORPHA:217346 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... |
ORPHA:289548 |
Kallmann Syndrome |
|
Primary amenorrhea, Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hyp... |
ORPHA:478 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Delayed puberty, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... |
OMIM:612702 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:398073 |
Basal Cell Nevus Syndrome 1 |
|
Hamartomatous stomach polyps, Medulloblastoma, Odontogenic keratocysts of the jaw, Cardiac rhabdo... |
OMIM:109400 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Shawl scrotum, Breast aplasia, Failure to thrive, Hypoplastic ... |
ORPHA:1231 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism |
ORPHA:242 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Retrograde ejaculation, Reduced circulating prolact... |
OMIM:223360 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Abnormal umbilical ... |
ORPHA:335 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, f... |
ORPHA:90794 |
Scarf Syndrome |
|
Perineal hypospadias, Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low posterior ... |
OMIM:312830 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Gonadoblastoma, Ambiguous genitalia, Ambiguous genitalia, female, Wide intermamil... |
ORPHA:1772 |
Apert Syndrome |
|
Hypertension, Ovarian neoplasm |
ORPHA:87 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Small pituitary gland, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614880 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... |
ORPHA:300373 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage |
ORPHA:99927 |
Adrenocortical Carcinoma |
|
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Increased urinary... |
ORPHA:1501 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Clitoral hypertrophy, Overgrowth of external gen... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Hypertension,... |
OMIM:604367 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... |
ORPHA:3411 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Hypoplastic nipples, Hemangioma, Cryptorchidism |
OMIM:618505 |
Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Clitoral hypertrophy, True hermaphroditism, Azoospermia, Hypospa... |
OMIM:400045 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... |
ORPHA:652 |
Tyshchenko Syndrome |
|
Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Low anterior hairline, Thick hair |
OMIM:615102 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Thyroid nodule, Papillary thyroid... |
ORPHA:79665 |
Lig4 Syndrome |
|
Hypothyroidism, Telangiectasia, Myelodysplasia, Failure to thrive, Cryptorchidism, Micropenis, Am... |
OMIM:606593 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Limb-Mammary Syndrome |
|
Hypohidrosis, Hypoplastic nipples |
OMIM:603543 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Small for gestational age, Heart murmur, Aortic regurgitation, Failure to thriv... |
OMIM:614866 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Fair ha... |
OMIM:604292 |
Ulnar-Mammary Syndrome |
|
Inverted nipples, Anterior pituitary hypoplasia, Sparse lateral eyebrow, Imperforate hymen, Shawl... |
OMIM:181450 |
Gray Platelet Syndrome |
|
Myelodysplasia, Abnormal bleeding, Abnormality of the menstrual cycle, Bruising susceptibility, E... |
ORPHA:721 |
Mgat2-Cdg |
|
Inverted nipples, Reflex asystolic syncope, Long eyelashes, Abnormal bleeding, Abnormality of the... |
ORPHA:79329 |
Crouzon Syndrome |
|
Dysgerminoma |
OMIM:123500 |
Proteus Syndrome |
|
Sudden cardiac death, Neoplasm of the central nervous system, Retinal hamartoma, Hamartoma, Cache... |
ORPHA:744 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Synophrys, Supernumerary nipple, Cryptorchidism, Micropenis, Low posterior hairline, Interhypotha... |
OMIM:618929 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, Absent eyelashes, Vaginal dryness, Supernumerary nipple, Hypospadias, Micropeni... |
OMIM:106260 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Thyroid nodule, Papillary thyroid carcinoma, Brea... |
ORPHA:247806 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... |
ORPHA:8 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Bicornuate uterus, Hypoplastic labia minora, Hypoplastic labia majora, H... |
OMIM:269150 |
Aromatase Deficiency |
|
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the nervous system, Prostate cancer, Weight loss, Genital neoplasm, Neoplasm of the l... |
ORPHA:2126 |
2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Hypogonadism, Decreased testicular size, Wide intermamillary distance, Long eyela... |
ORPHA:261349 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:79085 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Fair ha... |
OMIM:129900 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... |
ORPHA:523 |
Tetragametic Chimerism |
|
Ambiguous genitalia, Abnormality of the scrotum, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Hypospadias, Supernumerary nipple, Truncal obesity |
ORPHA:3224 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism,... |
ORPHA:2519 |
Sialuria |
|
Synophrys, Hirsutism, Low posterior hairline, Hypoplastic nipples, Generalized hirsutism |
OMIM:269921 |
Woods Syndrome |
|
Frontal hirsutism, Supernumerary nipple |
OMIM:615236 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Cutaneous myxoma, Adrenal hyperplasia, Paradoxical increased cortisol secretion on dexamethasone ... |
ORPHA:189439 |
Cowden Syndrome |
|
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... |
ORPHA:201 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Acces Syndrome |
|
Failure to thrive, Sparse scalp hair, Supernumerary nipple |
OMIM:619959 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyebrow, Frontal upsweep of hair, Wide intermamillary distance, Absent eyelashes, Labial h... |
OMIM:608156 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Sparse eyebrow, Sparse scalp hair, Heart murmur, Small for gesta... |
OMIM:216340 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Hypovo... |
ORPHA:64739 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Hypertension, Reduced circulating prolacti... |
ORPHA:79443 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... |
ORPHA:454840 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:176400 |
Pituitary Carcinoma |
|
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Increased circulating prolactin con... |
ORPHA:300385 |
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation |
|
Dystrophic toenail, Shawl scrotum, Small for gestational age, Long eyelashes, Supernumerary nippl... |
OMIM:604314 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Alopecia, Retinal hemorrhage, Breast aplasia, Supernumerary nipple, Fi... |
OMIM:308300 |
Mast Cell Sarcoma |
|
Sarcoma, Weight loss |
ORPHA:66661 |
Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... |
ORPHA:457083 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Localized neuroblastoma, Wide intermamillary distance, Hypoplastic nipples |
OMIM:156610 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Supernumerary nipple |
OMIM:616083 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:435651 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Abnormal external genitalia, ... |
OMIM:158330 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
Familial Adenomatous Polyposis |
|
Fibroma, Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal ... |
ORPHA:733 |
Van Maldergem Syndrome 2 |
|
High anterior hairline, Bifid scrotum, Hypospadias, Cryptorchidism, Hypoplastic nipples, Micropenis |
OMIM:615546 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Wide intermamillary distance, Hypoplastic nipples, Neonatal death, Hamartoma... |
OMIM:269860 |
Alg9-Cdg |
|
Inverted nipples, Bicornuate uterus, Hypoplasia of the ovary, Low posterior hairline, Hypoplastic... |
ORPHA:79328 |
Filippi Syndrome |
|
Supernumerary nipple, Cryptorchidism |
ORPHA:3255 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Myelodysplasia, Supernumerary nipple, Micropenis, Cryptorchidism, Highly arched eyebrow, Leukemia |
OMIM:619951 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Polycystic ovaries, Hirsutism, Insulin-resistant diabetes mellitus, ... |
ORPHA:90301 |
Trichohepatoneurodevelopmental Syndrome |
|
Hypothyroidism, Recurrent pancreatitis, Curly hair, Decreased body weight, Synophrys, Long eyelas... |
OMIM:618268 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Breast aplasia, Sparse pubic hair, Eunuchoid habitus, Type I diabetes ... |
ORPHA:3044 |
Developmental And Epileptic Encephalopathy 51 |
|
Failure to thrive, Supernumerary nipple |
OMIM:617339 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macro... |
ORPHA:189427 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Yellow nails, Sarcoma, Biliary tract neoplasm, Renal neoplasm, N... |
ORPHA:662 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... |
ORPHA:220460 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of penis, Supernumera... |
ORPHA:1812 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... |
OMIM:610475 |
Czeizel-Losonci Syndrome |
|
Wide intermamillary distance, Hypoplastic nipples |
ORPHA:2437 |
Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Cutaneous myxoma, Hyperplasia of the Leydig cells... |
ORPHA:562 |
Opsoclonus-Myoclonus Syndrome |
|
Breast carcinoma, Melanoma, Small cell lung carcinoma, Neoplasm, Ovarian teratoma, Neuroblastoma,... |
ORPHA:1183 |
Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Hypohidrosis, Hypoplastic labia majora, Supernumerary nipple, Fine hair, Decrease... |
OMIM:129400 |
Cowden-Like syndrome |
|
Breast carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Endometrial carcinoma |
OMIM:612359 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Supernumerary nipple, Cryptorchidism |
OMIM:618109 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Low-set nipples, Acute lymphoblastic leukemia, Large for gestational age, Fine hair, Hypoplastic ... |
OMIM:280000 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Bainbridge-Ropers Syndrome |
|
Precocious puberty, Death in infancy, Synophrys, Thin eyebrow, Long eyelashes, Supernumerary nipp... |
OMIM:615485 |
Johanson-Blizzard Syndrome |
|
Hypothyroidism, Sparse scalp hair, Fair hair, Frontal upsweep of hair, Small for gestational age,... |
OMIM:243800 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Failure to thrive, Female infertility |
OMIM:619518 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Angina pectoris, Congestive heart failure, Hypertension, Polycystic ov... |
ORPHA:90970 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hypoplastic nipples, Failure to thrive in infancy, Nail dystrophy |
ORPHA:261323 |
Afibrinogenemia, Congenital |
|
Death in infancy, Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Brui... |
OMIM:202400 |
Neurofibromatosis Type 1 |
|
Spinal neurofibromas, Multiple lipomas, Precocious puberty, Astrocytoma, Neoplasm of the gastroin... |
ORPHA:636 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... |
ORPHA:91350 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Fibroma, Nephroblastoma, Uterine leiomyoma, Weight loss, Thyroid carci... |
ORPHA:143 |
Large Congenital Melanocytic Nevus |
|
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Generalized hirsutism, Rhabdomyosarcoma |
ORPHA:626 |
Monosomy 9Q22.3 |
|
Nephroblastoma, Medulloblastoma, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Large ... |
ORPHA:77301 |
Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... |
OMIM:609441 |
Cornelia De Lange Syndrome 1 |
|
Synophrys, Long eyelashes, Hypoplastic labia majora, Hypospadias, Hirsutism, Cryptorchidism, Hypo... |
OMIM:122470 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Sparse eyebrow, Sparse scalp hair, Wide intermamillary distance, Supernumerary ni... |
ORPHA:1001 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decrea... |
OMIM:241080 |
Tuberous Sclerosis 2 |
|
Hypothyroidism, Precocious puberty, Astrocytoma, Chordoma, Adenoma sebaceum, Cardiac rhabdomyoma,... |
OMIM:613254 |
Cornelia De Lange Syndrome |
|
Primary amenorrhea, Synophrys, Long eyelashes, Hypoplasia of penis, Hypoplastic labia majora, Thi... |
ORPHA:199 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Ovarian cyst, Uterine leiomyoma, Adenoma... |
OMIM:617100 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Hypogonadism, Type II diabetes mellitus, Oligospermia, Frontal balding... |
OMIM:602668 |
Kleefstra Syndrome |
|
Synophrys, Hypoplasia of penis, Supernumerary nipple, Arrhythmia, Hypospadias, Cryptorchidism, Ob... |
ORPHA:261494 |
African Trypanosomiasis |
|
Alopecia, Myocarditis, Third degree atrioventricular block, Impotence, Weight loss, Abnormality o... |
ORPHA:3385 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Absence of labia majora, Hypospadias, Cryptorchidism, H... |
OMIM:265000 |
Grfoma |
|
Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonadotropin level, Weight l... |
ORPHA:97261 |
Liposarcoma |
|
Sarcoma, Weight loss |
ORPHA:69078 |
Monosomy 22 |
|
Hyperhidrosis, Sarcoma, Synophrys, Gonadal neoplasm, Schwannoma, Meningioma, Aplasia of the thymu... |
ORPHA:96123 |
Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Abnormality of the menstrual cycle, Congestive heart failure, Internal hemorr... |
ORPHA:90308 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gonadoblastoma, Wide intermamillary distance, Melanoma, Increased circulating gonadotropin level,... |
ORPHA:99413 |
Turner Syndrome |
|
Gonadoblastoma, Wide intermamillary distance, Melanoma, Increased circulating gonadotropin level,... |
ORPHA:881 |
Mosaic Monosomy X |
|
Gonadoblastoma, Wide intermamillary distance, Melanoma, Increased circulating gonadotropin level,... |
ORPHA:99228 |
Monosomy X |
|
Gonadoblastoma, Wide intermamillary distance, Melanoma, Increased circulating gonadotropin level,... |
ORPHA:99226 |
Bohring-Opitz Syndrome |
|
Wide intermamillary distance, Supernumerary nipple, Failure to thrive, Hirsutism, Facial hemangio... |
OMIM:605039 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Supernumerary nipple, Cryptorchidism |
OMIM:612530 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Alopecia, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Decreased response ... |
ORPHA:3464 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple |
ORPHA:246 |
Peutz-Jeghers Syndrome |
|
Breast carcinoma, Uterine neoplasm, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multipl... |
OMIM:175200 |
Ppoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... |
ORPHA:97278 |
Trisomy 12P |
|
Thick eyebrow, Supernumerary nipple |
ORPHA:1699 |
Bardet-Biedl Syndrome 1 |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Hypertension, Diabetes mellitu... |
OMIM:209900 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Sparse eyebrow, Aplasia/Hypoplasia of the nipples, Supernumerary nipple, Bifid uterus, Abnormal r... |
ORPHA:1521 |
Pallister-Hall Syndrome |
|
Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Hydrometrocolpos, Thyroid hypop... |
ORPHA:672 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Sparse eyelashes, Hypoplastic nipples, Sparse hair, Breast hypoplasia |
OMIM:230740 |
Ring Chromosome 12 Syndrome |
|
Dystrophic toenail, Hypothyroidism, Small for gestational age, Hemangioma, Hirsutism, Cryptorchid... |
ORPHA:1439 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Inverted nipples, High anterior hairline, Sparse eyebrow, Synophrys, Supernumerary nipple, Thick ... |
OMIM:620098 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Fibroma, Nephroblastoma, Uterine leiomyoma, Parathyroid adenoma, Thyro... |
ORPHA:99880 |
Culler-Jones Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Ectopic posteri... |
OMIM:615849 |
Aarskog-Scott Syndrome |
|
Shawl scrotum, Widow's peak, Bilateral cryptorchidism, Decreased serum testosterone concentration... |
OMIM:305400 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Synophrys, Supernumerary nipple, Cryptorchidism, Highly arched eyebrow, Chordee |
OMIM:616728 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Vipoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... |
ORPHA:97282 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hypothyroidism, Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary ... |
OMIM:610755 |
Char Syndrome |
|
Supernumerary nipple |
ORPHA:46627 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Supernumerary nipple |
OMIM:614376 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma, Death in infancy |
ORPHA:2098 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Vitreous hemorrhage, Leiomyosarcoma, Hyphema, Melanoma, Ewing sarcoma, ... |
ORPHA:790 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Supernumerary nipple |
OMIM:616579 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Neoplasm, Prolonged bleeding time, Hematemesis, P... |
ORPHA:906 |
Somatostatinoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... |
ORPHA:97283 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Familial Adenomatous Polyposis 1 |
|
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... |
OMIM:175100 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Shawl scrotum, Synophrys, Wide intermamill... |
OMIM:213980 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... |
OMIM:150800 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
High anterior hairline, Sparse eyebrow, Sparse scalp hair, Synophrys, Supernumerary nipple, Hypos... |
ORPHA:477993 |
Carpenter Syndrome 2 |
|
Sparse eyebrow, Shawl scrotum, Wide intermamillary distance, Bilateral cryptorchidism, Supernumer... |
OMIM:614976 |
Mastocytosis |
|
Hypotension, Sarcoma, Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Acute ... |
ORPHA:98292 |
Nelson Syndrome |
|
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... |
ORPHA:199244 |
Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
Pitt-Hopkins Syndrome |
|
Frontal upsweep of hair, Supernumerary nipple, Sparse medial eyebrow, Cryptorchidism, Micropenis |
OMIM:610954 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Fibroma, Tracheobronchial leiomyomatosis, Weight loss, Diffuse leiomyomatosis, Esophageal neoplas... |
ORPHA:1018 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Lymphoma, Telangiectasia, Neoplasm of the adrenal cortex, Thyroid carcinoma, Subcutaneous hemorrh... |
ORPHA:109 |
Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... |
ORPHA:37202 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Intestinal polyposis, Gastrointestinal hemorrhage, Desmoid tumors |
ORPHA:873 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Inverted nipples, Pulmonary arterial hypertension, External genital hypoplasia, Wide intermamilla... |
ORPHA:96334 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level, Sex reversal |
OMIM:613080 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Widow's peak, Supernumerary nipple |
OMIM:619122 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Hypothyroidism, Mitral regurgitation, Hypertrichosis |
OMIM:619750 |
Postaxial Acrofacial Dysostosis |
|
Micropenis, Supernumerary nipple, Cryptorchidism |
OMIM:263750 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Heart murmur, Supernumerary nipple, Cryptorchidism, Obesity, Highly arched eyebrow, Micropenis |
OMIM:618653 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,... |
ORPHA:44890 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Ambiguous genitalia, Decreased testicular size, External genital hypoplasia, Clitoral hypertrophy... |
OMIM:610644 |
Incontinentia Pigmenti |
|
Pulmonary arterial hypertension, Dystrophic toenail, Alopecia, Retinal hemorrhage, Hyperhidrosis,... |
ORPHA:464 |
Nmda Receptor Encephalitis |
|
Neoplasm of the thymus, Neuroblastoma, Orthostatic hypotension, Ovarian teratoma, Hodgkin lymphom... |
ORPHA:217253 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Wide intermamillary distance, Supernumerary nipple, Failure to thrive, H... |
ORPHA:397715 |
Au-Kline Syndrome |
|
Inverted nipples, Sparse lateral eyebrow, Wide intermamillary distance, Supernumerary nipple, Hyp... |
OMIM:616580 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Telangiectasia, Highly arched eyebrow, Supernumerary nipple |
ORPHA:247262 |
Simpson-Golabi-Behmel Syndrome |
|
Nephroblastoma, Death in infancy, Bundle branch block, Hypoplasia of penis, Supernumerary nipple,... |
ORPHA:373 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Pulmonary arterial hypertension, Congestive heart failure, Uterine leiomy... |
OMIM:616482 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Erythro... |
ORPHA:231222 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Failure to thrive, Cryptorchidism, Hodgkin lymphoma, Micropenis |
ORPHA:2896 |
3Mc Syndrome |
|
Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple |
ORPHA:293843 |
Ablepharon-Macrostomia Syndrome |
|
Ambiguous genitalia, Absent eyelashes, Hypoplastic labia majora, Absent eyebrow, Hypoplastic nipp... |
OMIM:200110 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Small scrotum, Microphallus, Supernumerary nipple, Cryptorchidis... |
OMIM:618454 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Truncal ataxia, Limb ataxia, Broad-based gait, Persistence of hemoglobin F |
OMIM:617101 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Adrenal insufficiency, Tachycardia, Abnormal left ventricular functi... |
ORPHA:99827 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Vitreous hemorrhage, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia |
OMIM:180200 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|