Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hyperprolactinemia |
|
Female infertility, Agalactia, Menorrhagia, Oligomenorrhea, Galactorrhea, Increased circulating p... |
OMIM:615555 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... |
ORPHA:163634 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... |
ORPHA:157798 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Werner Syndrome |
|
Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, N... |
ORPHA:902 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration... |
ORPHA:314478 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Squamous cell carcinoma, Ovarian neoplasm, Basal cell carcinoma, Facial telangiectasia,... |
ORPHA:50944 |
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 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Hypoplastic areola, Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus st... |
OMIM:616001 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Ovarian neoplasm, Fine hair, ... |
ORPHA:2221 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... |
OMIM:615842 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm, Neoplasm ... |
ORPHA:83469 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Meningioma |
|
Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro... |
ORPHA:2495 |
Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Sp... |
ORPHA:370348 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Neoplasm of the breast, Hamart... |
ORPHA:137608 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Galactor... |
ORPHA:397685 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
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 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... |
ORPHA:276399 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Wide intermamillary distance, Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Glioblastoma mu... |
ORPHA:144 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le... |
ORPHA:1359 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Renal neoplasm,... |
ORPHA:440437 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... |
OMIM:613762 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Hypoplastic areola, Aplasia/Hypoplasia of the nipples, Absent nipple, Aplasia/Hypoplasia of the b... |
OMIM:113700 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, ... |
OMIM:158350 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Hypohidrosis, Bilateral breast hypop... |
ORPHA:69085 |
Fanconi Anemia, Complementation Group S |
|
Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa... |
OMIM:617883 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica... |
ORPHA:231632 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... |
ORPHA:99429 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic areola, Hypogonadism, Hypoplastic nipples, Sparse hair, Arrhythmia |
OMIM:273400 |
Adenohypophysitis |
|
Orthostatic hypotension, Decreased circulating cortisol level, Decreased female libido, Reduced c... |
ORPHA:95512 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Abnormali... |
ORPHA:1173 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... |
OMIM:614941 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p... |
ORPHA:157954 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Adult Syndrome |
|
Sparse scalp hair, Wide intermamillary distance, Absent nipple, Fair hair, Sparse axillary hair, ... |
OMIM:103285 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Barber-Say Syndrome |
|
Inverted nipples, Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hypoplastic la... |
OMIM:209885 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Ileal adenocarcinoma, Heart murmur, Adrenocorticotropic hormone excess, Ovari... |
ORPHA:100079 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Fine hair, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Soft tissue sarcoma, Adrenocortical carcinoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Tetraamelia Syndrome 2 |
|
Micropenis, Absent nipple |
OMIM:618021 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... |
ORPHA:314473 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... |
ORPHA:247768 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Hypertension, I... |
ORPHA:280356 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Death in infancy, Tricuspid regurgitation, Small scrotum, Absent nipple, Small... |
OMIM:612289 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Decreased fertility, Breast aplasia, Abnormality of... |
ORPHA:3138 |
Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... |
ORPHA:296 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
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 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
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 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Neoplasm of the breast,... |
ORPHA:79474 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Abnormality of the breast, Uterus didelphys, Bicornuate uterus, Unicornuate uterus |
OMIM:200980 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Absent nipple, Brittle hair, Sparse eyelashes, Aplasia/Hypoplastia of... |
OMIM:305100 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... |
OMIM:620186 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Breast carcinoma, Weight loss, Melanoma, Ovarian ca... |
ORPHA:1333 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... |
ORPHA:91 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... |
ORPHA:2965 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia, Hypohidrosis |
OMIM:129550 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Wide intermamillary distance, Hypogonadotropic hypogonadism, Crypt... |
ORPHA:432 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233400 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple |
OMIM:104350 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Neoplasm of head a... |
ORPHA:180229 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... |
OMIM:159550 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr... |
ORPHA:137605 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Small for gestational age, Thin eyebrow, Supernumerary nipple |
OMIM:617635 |
Scarf Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Perineal hypospadias, Low posterior ... |
ORPHA:3134 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... |
ORPHA:90795 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Hypoplastic labia minora, Aplasia/Hypoplasia of the breasts, Abnormality of... |
ORPHA:64755 |
Steinert Myotonic Dystrophy |
|
Brain neoplasm, Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non... |
ORPHA:273 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
Ichthyosis With Confetti |
|
Hypertrichosis, Hypoplastic nipples, Decreased body weight |
OMIM:609165 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypoplastic nipples, Hypospadias, Hypoplastic female external genitalia |
OMIM:177980 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Martin-Probst Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Telangiectasia, Chordee, Hypoplastic... |
OMIM:300519 |
Branchioskeletogenital Syndrome |
|
Absent nipple, Highly arched eyebrow, Absent external genitalia, Synophrys, Micropenis, Penoscrot... |
ORPHA:1299 |
Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Hypertension, Internal hemor... |
ORPHA:69077 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98754 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem... |
ORPHA:335 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Sparse hair, Ungual fi... |
ORPHA:1433 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Abnormal hair morphology... |
ORPHA:2591 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Hypospadias, Cachexia, Supernumerary nipple, Cryptor... |
ORPHA:217346 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... |
ORPHA:276152 |
Nipples, Supernumerary |
|
Supernumerary nipple |
OMIM:163700 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98793 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177901 |
Scarf Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low anterior hairline, Perineal hypo... |
OMIM:312830 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Abnormality of the ovary |
ORPHA:543 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Cryptorchidism, Hemangioma, Hypoplastic nipples |
OMIM:618505 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... |
OMIM:109400 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
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 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Barber-Say Syndrome |
|
Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl scrotum, Failure to thrive... |
ORPHA:1231 |
Tyshchenko Syndrome |
|
Thick hair, Supernumerary nipple, Cryptorchidism, Low anterior hairline, Pulmonic stenosis |
OMIM:615102 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Apert Syndrome |
|
Hypertension, Ovarian neoplasm |
ORPHA:87 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... |
ORPHA:300373 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Retrog... |
OMIM:223360 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Hypospadias, Small for gestation... |
OMIM:614866 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... |
OMIM:604367 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Congestive he... |
ORPHA:528 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Supernumerary nipple, Cryptorchidism, Synophrys, Low posterior hairline,... |
OMIM:618929 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... |
ORPHA:79444 |
Limb-Mammary Syndrome |
|
Hypoplastic nipples, Hypohidrosis |
OMIM:603543 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Pulmonary arterial hypertension,... |
ORPHA:2519 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Nablus Mask-Like Facial Syndrome |
|
Wide intermamillary distance, Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorc... |
OMIM:608156 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Ulnar-Mammary Syndrome |
|
Inverted nipples, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Spar... |
OMIM:181450 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
Crouzon Syndrome |
|
Dysgerminoma |
OMIM:123500 |
Hydatidiform Mole |
|
Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Myelodysplasia, Abnormality of the menstrual cycle, Bruising suscep... |
ORPHA:721 |
Proteus Syndrome |
|
Pulmonary embolism, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, Cap... |
ORPHA:744 |
Mgat2-Cdg |
|
Abnormal bleeding, Inverted nipples, Abnormality of the endocrine system, Long eyelashes, Hypopla... |
ORPHA:79329 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail dyst... |
OMIM:106260 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f... |
OMIM:269150 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Sialuria |
|
Synophrys, Low posterior hairline, Hypoplastic nipples, Generalized hirsutism, Hirsutism |
OMIM:269921 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... |
ORPHA:480536 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple |
ORPHA:3224 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... |
OMIM:604292 |
Woods Syndrome |
|
Frontal hirsutism, Supernumerary nipple |
OMIM:615236 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent nipple, Hypospadias, Small for gestational age, Failure to thrive in in... |
OMIM:216340 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Acces Syndrome |
|
Sparse scalp hair, Failure to thrive, Supernumerary nipple |
OMIM:619959 |
Solitary Fibrous Tumor |
|
Vaginal neoplasm, Soft tissue neoplasm, Genital neoplasm, Weight loss, Neoplasm of the lung, Neop... |
ORPHA:2126 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Myelodysplasia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Leukemia, Micropenis |
OMIM:619951 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Fine ha... |
ORPHA:261349 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... |
ORPHA:201 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... |
OMIM:129900 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... |
ORPHA:79443 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Cryptorchidism, Hypospadias, Supernumerary nipple |
OMIM:618109 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435651 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... |
ORPHA:326 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Small for gestational age, Supernumerary nipple, Facial capillary hemangioma, Low an... |
OMIM:604314 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Supernumerary nipple |
OMIM:616083 |
Filippi Syndrome |
|
Cryptorchidism, Supernumerary nipple |
ORPHA:3255 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, High anterior hairline, Hypoplastic nipples, Micropenis |
OMIM:615546 |
Incontinentia Pigmenti |
|
Alopecia, Supernumerary nipple, Retinal hemorrhage, Fine hair, Coarse hair, Breast aplasia, Hypop... |
OMIM:308300 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Mast Cell Sarcoma |
|
Sarcoma, Weight loss |
ORPHA:66661 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... |
ORPHA:3044 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Localized neuroblastoma, Wide intermamillary distance, Hypoplastic nipples |
OMIM:156610 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Hypohidrosis, Hypothyroidis... |
ORPHA:1812 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Short-Rib Thoracic Dysplasia 12 |
|
Wide intermamillary distance, Hamartoma of tongue, Neonatal death, Hypoplastic nipples, Ambiguous... |
OMIM:269860 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Developmental And Epileptic Encephalopathy 51 |
|
Failure to thrive, Supernumerary nipple |
OMIM:617339 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Woolly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Recurrent p... |
OMIM:618268 |
Alg9-Cdg |
|
Inverted nipples, Tricuspid regurgitation, Low posterior hairline, Bicornuate uterus, Hypoplasia ... |
ORPHA:79328 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, ... |
OMIM:615109 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... |
ORPHA:143 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Thick eyebrow, Supernumerary nipple, Highly arched eyebrow, Precocious puberty,... |
OMIM:615485 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Czeizel-Losonci Syndrome |
|
Wide intermamillary distance, Hypoplastic nipples |
ORPHA:2437 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... |
OMIM:129400 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Low posterior hai... |
OMIM:122470 |
Ring Chromosome 12 Syndrome |
|
Small for gestational age, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Dystrophic t... |
ORPHA:1439 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Yellow Nail Syndrome |
|
Renal neoplasm, Yellow nails, Neoplasm of the lung, Neoplasm, Pulmonary arterial hypertension, Sa... |
ORPHA:662 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Nail dystrophy, Failure to thrive in infancy, Hypoplastic nipples |
ORPHA:261323 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Precocious puberty, Abnormality of the endocrine system, Cry... |
ORPHA:636 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased circulating cor... |
OMIM:615962 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Hypospadias, Cryptorchidism, Absence of labia majora, H... |
OMIM:265000 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Sy... |
ORPHA:261494 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age,... |
ORPHA:77301 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Wide intermamillary distance, Highly arched eyebrow, Supernumerary nipple, Spa... |
ORPHA:1001 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... |
ORPHA:99880 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Precocious puberty, Retinal... |
OMIM:613254 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Cryptorchidism, Supernumerary nipple |
OMIM:612530 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Alopecia, Miscarriage, Abnormality of the menstrual cycle, Abnormalit... |
ORPHA:3385 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophr... |
ORPHA:199 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Synophrys, Hyperhidrosis, Gonadal neoplasm, Sparse hair, Micro... |
ORPHA:96123 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamill... |
ORPHA:99413 |
Turner Syndrome |
|
Myocardial infarction, Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamill... |
ORPHA:881 |
Mosaic Monosomy X |
|
Myocardial infarction, Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamill... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamill... |
ORPHA:99226 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Large for gestational age, Low-set nipples, Fine hair, Hydrocele testis, A... |
OMIM:280000 |
Liposarcoma |
|
Sarcoma, Weight loss |
ORPHA:69078 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Intestinal ble... |
OMIM:175200 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Bohring-Opitz Syndrome |
|
Wide intermamillary distance, Thick hair, Supernumerary nipple, Low anterior hairline, Hypertrich... |
OMIM:605039 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple |
ORPHA:246 |
Myotonic Dystrophy 2 |
|
Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Oligo... |
OMIM:602668 |
Milroy Disease |
|
Hydrocele testis, Neoplasm of the skin, Angiosarcoma |
ORPHA:79452 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... |
ORPHA:3464 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Diabetes mellitus, Hypospadias, Small for gestational age, Septate vagina, Por... |
OMIM:243800 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Abnormality of the mens... |
ORPHA:90308 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Trisomy 12P |
|
Thick eyebrow, Supernumerary nipple |
ORPHA:1699 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Apla... |
ORPHA:1521 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breast hypoplasia |
OMIM:230740 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Hypertensio... |
OMIM:209900 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Inverted nipples, Supernumerary nipple, Sparse eyebrow, Synophrys, High anterior hairline, Thick ... |
OMIM:620098 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Nail dystrop... |
OMIM:610644 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Char Syndrome |
|
Supernumerary nipple |
ORPHA:46627 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Supernumerary nipple |
OMIM:614376 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... |
ORPHA:790 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Acromesomelic Dysplasia, Grebe Type |
|
Death in infancy, Sarcoma |
ORPHA:2098 |
Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating ... |
ORPHA:97278 |
Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating ... |
ORPHA:97261 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Frontal upsweep of hair, Micropenis, Sparse medial eyebrow |
OMIM:610954 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Supernumerary nipple |
OMIM:616579 |
Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia |
ORPHA:621 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Heart murmur, Micropenis |
OMIM:618653 |
Carpenter Syndrome 2 |
|
Wide intermamillary distance, Tricuspid regurgitation, Supernumerary nipple, Highly arched eyebro... |
OMIM:614976 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of ... |
ORPHA:217253 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide intermamillary distance, Decreased response to growth hormone stimulation test, Supernumerar... |
OMIM:213980 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Renal cell carcinoma, Uterine leiomyoma,... |
OMIM:150800 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Postaxial Acrofacial Dysostosis |
|
Cryptorchidism, Micropenis, Supernumerary nipple |
OMIM:263750 |
Wiskott-Aldrich Syndrome |
|
Intracranial hemorrhage, Neoplasm, Hypoplasia of the thymus, Internal hemorrhage, Prolonged bleed... |
ORPHA:906 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Chordee |
OMIM:616728 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma |
OMIM:617100 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Inverted nipples, Wide intermamillary distance, Miscarriage, External genital hypoplasia, Large f... |
ORPHA:96334 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... |
OMIM:305400 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Abnor... |
ORPHA:1018 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... |
ORPHA:97282 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Hodgkin lymphoma, Micropenis, Failure to thrive |
ORPHA:2896 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Widow's peak, Supernumerary nipple |
OMIM:619122 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Au-Kline Syndrome |
|
Inverted nipples, Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Hypertensio... |
OMIM:616580 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Mitral regurgitation, Hypothyroidism, Hypertrichosis |
OMIM:619750 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Angina pectoris, Cachexia, Visceral angiomatosis, Lymphoma, Telan... |
ORPHA:109 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, El... |
ORPHA:97283 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hypoplasia of penis, Death in infancy, Hypospadias, N... |
ORPHA:373 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Hypospadias, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, ... |
ORPHA:477993 |
3Mc Syndrome |
|
Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple |
ORPHA:293843 |
Incontinentia Pigmenti |
|
Alopecia, Telangiectasia of the skin, Supernumerary nipple, Abnormal hair morphology, Congestive ... |
ORPHA:464 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Microphallus, Pulmona... |
OMIM:618454 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Wide intermamillary distance, Hypospadias, Supernumerary nipple, Dilated third ventricle, Failure... |
ORPHA:397715 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
Desmoid Tumor |
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Gastrointestinal hemorrhage, Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Highly arched eyebrow, Supernumerary nipple, Telangiectasia |
ORPHA:247262 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Congestive heart failure, Irregular menstruation, Uterine leiomyoma, Neonatal death, Pulmonary ar... |
OMIM:616482 |
Interstitial Cystitis |
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Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Focal Dermal Hypoplasia |
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Brittle hair, Supernumerary nipple, Cryptorchidism, Telangiectasia, Clitoral hypoplasia, Patchy a... |
OMIM:305600 |
Hypoplasminogenemia |
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Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Ablepharon-Macrostomia Syndrome |
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Absent eyebrow, Absent eyelashes, Hypoplastic labia majora, Sparse hair, Hypoplastic nipples, Amb... |
OMIM:200110 |
Familial Adenomatous Polyposis 1 |
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Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Abnormal cardiac ventricular function, Tricuspid regurgitation, Anterior pituitary hypoplasia, Su... |
ORPHA:466791 |
Retinoblastoma |
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Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Supernumerary nipple |
ORPHA:457279 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Ecchymosis, Internal hemo... |
ORPHA:99827 |
Tuberous Sclerosis Complex |
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Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Deafness-Lymphedema-Leukemia Syndrome |
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Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Glucagonoma |
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Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, El... |
ORPHA:97280 |
Inhalational Anthrax |
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Internal hemorrhage, Hypotension, Abnormal sweat gland morphology |
ORPHA:247257 |
Adams-Oliver Syndrome 1 |
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Alopecia, Supernumerary nipple, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension,... |
OMIM:100300 |
Terminal Osseous Dysplasia |
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Fibroma |
OMIM:300244 |
Primary Ciliary Dyskinesia |
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Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Oculoectodermal Syndrome |
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Hypertrophic cardiomyopathy, Transient ischemic attack, Supernumerary nipple, Pineal cyst |
OMIM:600268 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Small for gestational age, Elevated circulating luteinizing hormone level, Highly arched eyebrow,... |
OMIM:618419 |
Chromosome 13Q14 Deletion Syndrome |
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Cryptorchidism, Micropenis, Retinoblastoma, Supernumerary nipple |
OMIM:613884 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Histiocytoma, Premature graying of hair, Fibrosarcoma, Bruising susceptibility, Osteosarcoma |
OMIM:112250 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Cryptorchidism, High anterior hairline, Capillary hemangioma, Supernumerary nipple |
OMIM:619194 |
Staphylococcal Necrotizing Pneumonia |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Le... |
ORPHA:36238 |
Acquired Purpura Fulminans |
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Shock, Intracranial hemorrhage, Prolonged prothrombin time, Neoplasm, Macular purpura, Internal h... |
ORPHA:49566 |
Fanconi Anemia, Complementation Group E |
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Small for gestational age, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia |
OMIM:600901 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Leiomyoma, Uterine |
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Uterine leiomyoma |
OMIM:150699 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Curly hair, Abnormal circulating thyroid hormone concentration, Cyst of the ductus choledochus, C... |
ORPHA:480880 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Herpes Simplex Virus Encephalitis |
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Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Lymphedema-Distichiasis Syndrome |
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Fibrosarcoma, Arrhythmia, Diabetes mellitus, Distichiasis |
ORPHA:33001 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Inverted nipples, Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Hypothyroidism |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Inverted nipples, Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Hypothyroidism |
ORPHA:352665 |
Fanconi Anemia, Complementation Group A |
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Small for gestational age, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia |
OMIM:227650 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Coarse hair, Sparse hair, D... |
ORPHA:1071 |
Fanconi Anemia, Complementation Group C |
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Short stature, Small for gestational age, Cryptorchidism, Prolonged G2 phase of cell cycle, Intra... |
OMIM:227645 |
Oliver Syndrome |
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Thick eyebrow, Supernumerary nipple |
ORPHA:2920 |
Igg4-Related Thyroid Disease |
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Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Adult-Onset Still Disease |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Supernumerary nipple |
ORPHA:1236 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto... |
ORPHA:124 |
3Mc Syndrome 1 |
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Conjunctival telangiectasia, Synophrys, Highly arched eyebrow, Supernumerary nipple |
OMIM:257920 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... |
OMIM:617099 |
Aicardi Syndrome |
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Precocious puberty, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangi... |
OMIM:304050 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Duplication Of The Pituitary Gland |
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Abnormal hypothalamus morphology, Teratoma, Abnormal pituitary gland morphology, Decreased body w... |
ORPHA:314621 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Basal Cell Nevus Syndrome 2 |
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Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Wide intermamillary distance, Hypospadias, Nephroblastoma, Supernumerary nipple, Short nail, Cryp... |
OMIM:312870 |
Lead Poisoning |
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Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Branchiooculofacial Syndrome |
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Wide intermamillary distance, Hypospadias, Supernumerary nipple, Cryptorchidism, Low posterior ha... |
OMIM:113620 |
Fanconi Anemia, Complementation Group D2 |
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Small for gestational age, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia |
OMIM:227646 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
Thymoma |
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Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Hemorrhagic Fever-Renal Syndrome |
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Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Marburg Hemorrhagic Fever |
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Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Orc... |
ORPHA:99826 |
Acute Generalized Exanthematous Pustulosis |
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Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Small scrotum, Hypospadias, Sparse eyelashes, Supernumerary nipple, ... |
OMIM:601803 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Broad eyebrow |
OMIM:235730 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Abnormal hemoglobin, Anemia |
ORPHA:847 |
Meige Disease |
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Angiosarcoma |
ORPHA:90186 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Familial Mediterranean Fever |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Yellow Fever |
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Abnormal bleeding, Shock, Acute pancreatitis, Supraventricular arrhythmia, Excessive bleeding aft... |
ORPHA:99829 |
Hellp Syndrome |
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Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypotension, Internal hem... |
ORPHA:244242 |
Superficial Siderosis |
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Abnormal bleeding, Subarachnoid hemorrhage, Neoplasm of the central nervous system, Persistent bl... |
ORPHA:247245 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal bleeding, Alopecia, Telangiectasia of the skin, Transient ischemic attack, Hypospadias, ... |
ORPHA:286 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Schwannoma, Ossifying fibroma, Mitral regurgitation, Hemangioma, Pulmonic stenosis, Lisch nodules... |
ORPHA:363700 |