Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia |
OMIM:613977 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... |
ORPHA:90301 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... |
OMIM:250790 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... |
ORPHA:91348 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Anemia, Cervix cancer, Enlarged polycystic ovaries |
ORPHA:2869 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenom... |
ORPHA:848 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Leukopenia, Enlarged ovaries, Polycystic ovaries, Thrombocyto... |
ORPHA:2298 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonado... |
ORPHA:64739 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma |
ORPHA:231736 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst |
ORPHA:397685 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Rabson-Mendenhall Syndrome |
|
Long penis, Enlarged ovaries, Precocious puberty, Clitoral hypertrophy, Increased pineal volume |
ORPHA:769 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... |
OMIM:611548 |
Estrogen Resistance Syndrome |
|
Breast hypoplasia, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hypopla... |
ORPHA:785 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Polycystic ovaries, Hypopla... |
ORPHA:90796 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum |
ORPHA:2745 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Aniridia, Abnormality of t... |
OMIM:194072 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Leprechaunism |
|
Hepatomegaly, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral hypertrophy, Overgrowth ... |
ORPHA:508 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorc... |
ORPHA:3085 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Adrenal hyperplasia, Fused labia majora, Elevated circulating follicle... |
ORPHA:95699 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Female... |
ORPHA:91 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Preeclampsia |
|
Thrombocytopenia, Polycystic ovaries |
ORPHA:275555 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79084 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... |
OMIM:228300 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Erythroid hyperplasia, Cholelithiasis, Persistenc... |
ORPHA:231222 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia |
OMIM:165550 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, HbH hemoglobin, Microcytic anemia, Cryptorchidism |
ORPHA:98791 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Ataxia-Telangiectasia |
|
Abnormal testis morphology, Polycystic ovaries, Lymphopenia |
ORPHA:100 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries |
ORPHA:280356 |
Premature Ovarian Failure 18 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619203 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Distal Monosomy 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Cowden Syndrome |
|
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the ut... |
ORPHA:201 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... |
OMIM:120200 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries |
ORPHA:2795 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Polycystic ovaries, Hypergonadotropic hypogonadism, Pigmentary retinopathy |
OMIM:268020 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... |
ORPHA:335 |
Proteus Syndrome |
|
Ovarian neoplasm, Abnormality of retinal pigmentation, Retinal nonattachment, Chorioretinal colob... |
ORPHA:744 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegal... |
ORPHA:231214 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Crypt... |
OMIM:141750 |
Peutz-Jeghers Syndrome |
|
Iron deficiency anemia, Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious pube... |
OMIM:175200 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hyp... |
ORPHA:231226 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... |
ORPHA:90793 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormality of the male genitalia, Anemia, Abnormal hemoglobin, Ambiguous genitali... |
ORPHA:847 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... |
ORPHA:90797 |
Bangstad Syndrome |
|
Abnormal testis morphology, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:1227 |
Donohue Syndrome |
|
Clitoral hypertrophy, Precocious puberty, Long penis, Ovarian cyst |
OMIM:246200 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Thymoma |
|
Prostate neoplasm, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Aplastic anemia |
ORPHA:99867 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytope... |
OMIM:260400 |
Cowden Syndrome 1 |
|
Goiter, Varicocele, Ovarian carcinoma, Lymphopenia, Ovarian cyst, Hydrocele testis |
OMIM:158350 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Polycystic ovaries, Clitoral hypertrophy, Overgrowth... |
ORPHA:528 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Shawl... |
OMIM:301040 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Polycystic ovaries, Splenomegaly, Retinal detachment, Abnormality of the para... |
ORPHA:2969 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79085 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Long penis, Polycystic ovaries, Ambiguous genitalia, female, Clito... |
ORPHA:90795 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Polycystic ovaries, Splenomegaly |
ORPHA:2348 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Polycystic ovaries, Abnormal testis morphology, Precocious pub... |
ORPHA:457059 |
Mccune-Albright Syndrome |
|
Macroorchidism, Goiter, Abnormal testis morphology, Hyperplasia of the Leydig cells, Pancytopenia... |
ORPHA:562 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Polycystic ovaries, Anemia, Splenomegaly, Abnormal erythrocyte enzyme level |
ORPHA:264580 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Ovarian cyst, Eosinophilia, Abnormality of the testis size |
ORPHA:400 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Polycystic ovaries, Nodular goiter, Iris coloboma, Papilledema, Premature thelarche |
ORPHA:371428 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Polycystic ovaries, Anemia, Splenomegaly |
ORPHA:79240 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Splenomegaly |
ORPHA:79083 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries |
OMIM:604367 |
Blackfan-Diamond Anemia |
|
Hypospadias, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased ... |
ORPHA:124 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Polycystic ovaries, Abnormal erythrocyte enzyme level, Splenomegaly |
ORPHA:370 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:435651 |
Cowden Syndrome 6 |
|
Varicocele, Ovarian cyst, Goiter, Hydrocele testis |
OMIM:615109 |
Cowden Syndrome 5 |
|
Ovarian cyst, Goiter, Hydrocele testis |
OMIM:615108 |
Primary Lipodystrophy |
|
Polycystic ovaries, Splenomegaly |
ORPHA:90970 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... |
ORPHA:91495 |
Lead Poisoning |
|
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... |
ORPHA:330015 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma |
OMIM:221900 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Polycystic ovaries, Splenomegaly |
ORPHA:280365 |
Fibrous Dysplasia Of Bone |
|
Hyperpituitarism, Precocious puberty in females, Elevated circulating growth hormone concentratio... |
ORPHA:249 |
Infantile Systemic Hyalinosis |
|
Polycystic ovaries |
ORPHA:2176 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney |
ORPHA:276280 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment |
ORPHA:2714 |
Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... |
OMIM:614527 |
Carney Complex |
|
Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi... |
ORPHA:1359 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Hepatomegaly, Abnormal myeloid leukocyte morphology, Polycystic ovaries, Ane... |
ORPHA:79259 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Streak ovary, Elevated circulating follicle stimulating hormone level, Po... |
ORPHA:572333 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst |
OMIM:311200 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79086 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Polycystic ovaries, Labial hypertrophy, Splenomegaly, Clitoral hypertrophy |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Polycystic ovaries, Labial hypertrophy, Splenomegaly, Clitoral hypertrophy |
OMIM:269700 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Polycystic ovaries, Labial pseudohypertrophy |
OMIM:151660 |
Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Optic atrophy, Polycystic ovaries, Hepatomegaly |
ORPHA:137675 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Iris coloboma, Retinal detachment, Septate vagina, Remnants of the hyaloid vascular ... |
OMIM:300166 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... |
OMIM:201750 |
Norrie Disease |
|
Optic atrophy, Uterine rupture, Ectopia lentis, Retinal detachment, Remnants of the hyaloid vascu... |
ORPHA:649 |
Neurofibromatosis Type 2 |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma |
OMIM:619539 |
Williams Syndrome |
|
Urethral stenosis, Hypogonadotropic hypogonadism, Polycystic ovaries, Cardiomegaly, Cholelithiasi... |
ORPHA:904 |
Alström Syndrome |
|
Oligospermia, Hepatomegaly, Hyoplasia of the Leydig cells, Optic disc pallor, Precocious puberty ... |
ORPHA:64 |