Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Hepatomegaly, Auto... |
OMIM:614470 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... |
ORPHA:206484 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Functioning Gonadotropic Adenoma |
|
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:91348 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Tetragametic Chimerism |
|
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... |
ORPHA:199310 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Hepatomegaly |
OMIM:619644 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonado... |
ORPHA:64739 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries, Thrombocytopenia, ... |
ORPHA:2298 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst |
OMIM:613546 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer, Anemia |
ORPHA:2869 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... |
ORPHA:785 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... |
ORPHA:261529 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go... |
OMIM:194072 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... |
ORPHA:90796 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Enlarged ovaries, Increased pineal volume |
ORPHA:769 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias |
ORPHA:2745 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:543 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... |
OMIM:226990 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of retinal pigmentation, Cryptorchidism, Polycystic ovarie... |
ORPHA:3085 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... |
OMIM:612541 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79084 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... |
ORPHA:91 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Leprechaunism |
|
Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertrophy, Enlarged ... |
ORPHA:508 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Neutrophilia, Hepatomegaly,... |
OMIM:620565 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Abno... |
ORPHA:95699 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Ovarian Fibrothecoma |
|
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma |
ORPHA:314478 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
Premature Ovarian Failure 5 |
|
Streak ovary, Hypoplasia of the ovary |
OMIM:611548 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries |
ORPHA:280356 |
Ovarian Dysgenesis 10 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:619834 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
Ataxia-Telangiectasia |
|
Lymphopenia, Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:615723 |
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Pigmentary retinopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
Distal Deletion 10P |
|
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries |
ORPHA:1580 |
Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:615724 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:619203 |
Cowden Syndrome |
|
Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol... |
ORPHA:201 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... |
ORPHA:335 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology |
ORPHA:247768 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Micropenis, Hypoplasia of the ovary, Cryptorchidism |
OMIM:618841 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Male hypogonadism, Precocious puberty in females,... |
ORPHA:90793 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries |
ORPHA:1227 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79085 |
Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
Estrogen Resistance |
|
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:614324 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
Proteus Syndrome |
|
Retinal nonattachment, Long penis, Thymus hyperplasia, Chorioretinal coloboma, Splenomegaly, Abno... |
ORPHA:744 |
Preeclampsia |
|
Thrombocytopenia, Polycystic ovaries |
ORPHA:275555 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the testis size, Abscess, Ovarian cyst, Splenic cyst, Eosinoph... |
ORPHA:400 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Polycystic ova... |
ORPHA:90795 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
Donohue Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Ovarian cyst |
OMIM:246200 |
Cowden Syndrome 1 |
|
Varicocele, Goiter, Lymphopenia, Ovarian carcinoma, Ovarian cyst, Hydrocele testis |
OMIM:158350 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:435651 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Polycystic... |
ORPHA:528 |
Lipe-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly, Abnormal labia majora morphology |
ORPHA:435660 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Retin... |
ORPHA:2969 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Polycystic ovaries, Premature thelarche, Papilledema, Nodular goiter, Iris coloboma |
ORPHA:371428 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries |
ORPHA:2348 |
Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries |
OMIM:604367 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst |
OMIM:610475 |
Cowden Syndrome 6 |
|
Varicocele, Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615109 |
Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Ovarian cyst, Iron deficiency anemia, Precocious puberty with Sertoli cell tumo... |
OMIM:175200 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries |
ORPHA:79083 |
Cowden Syndrome 5 |
|
Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615108 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Goiter, Pancytopenia, Ovarian ... |
ORPHA:562 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Retinal degeneration, Left ven... |
OMIM:209900 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
Short Syndrome |
|
Ovarian cyst |
OMIM:269880 |
Hyperparathyroidism, Transient Neonatal |
|
Splenic cyst, Hyperparathyroidism, Enlarged kidney, Ovarian cyst |
OMIM:618188 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Polycystic ovaries |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Polycystic ovaries, Anemia, Abnormal erythrocyte enzyme concentration or activity, ... |
ORPHA:264580 |
Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... |
ORPHA:91495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... |
OMIM:614643 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney |
ORPHA:276280 |
Infantile Systemic Hyalinosis |
|
Polycystic ovaries |
ORPHA:2176 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon... |
ORPHA:249 |
Carney Complex |
|
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... |
ORPHA:1359 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries |
ORPHA:280365 |
Atelis Syndrome 2 |
|
Anemia, Thrombocytopenia, Remnants of the hyaloid vascular system |
OMIM:620185 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79086 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Labial pseudohypertrophy, Polycystic ovaries |
OMIM:151660 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Polycystic ovaries, Anemia, Hepatomegaly, Abnormal myeloid leukocyte morphology, Enlarged kidney,... |
ORPHA:79259 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Polycystic ovaries, Hepatomegaly, Elevate... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Polycystic ovaries, Hepatomegaly |
OMIM:608594 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Optic atrophy, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... |
OMIM:201750 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... |
ORPHA:572333 |
Acromelic Frontonasal Dysostosis |
|
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst |
OMIM:311200 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Septate vagina, Cryptorchidism, Retinal detachment, Remnants of the hyaloid vascular... |
OMIM:300166 |
Pierson Syndrome |
|
Retinal hemorrhage, Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular sy... |
OMIM:609049 |
Bardet-Biedl Syndrome |
|
Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreased testicular size, Cryp... |
ORPHA:110 |
Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Parathyroid agenesis, Hypopla... |
OMIM:188400 |
Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyc... |
OMIM:157170 |
Norrie Disease |
|
Optic atrophy, Uterine rupture, Cryptorchidism, Retinal detachment, Remnants of the hyaloid vascu... |
ORPHA:649 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Abnormality of the ovary, Gonadoblastoma, Increased circulating gonadotropin level |
ORPHA:99413 |
Turner Syndrome |
|
Abnormality of the ovary, Gonadoblastoma, Increased circulating gonadotropin level |
ORPHA:881 |
Mosaic Monosomy X |
|
Abnormality of the ovary, Gonadoblastoma, Increased circulating gonadotropin level |
ORPHA:99228 |
Monosomy X |
|
Abnormality of the ovary, Gonadoblastoma, Increased circulating gonadotropin level |
ORPHA:99226 |
Neuroocular Syndrome 1 |
|
Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:619539 |
Williams Syndrome |
|
Precocious puberty, Cholelithiasis, Cryptorchidism, Polycystic ovaries, Cardiomegaly, Hypogonadot... |
ORPHA:904 |
Alström Syndrome |
|
Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Leydig cells, Decreased res... |
ORPHA:64 |