Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Attention deficit hyperactivity disorder, Macroorch... |
ORPHA:3000 |
Partington Syndrome |
|
EEG abnormality, Limb dystonia, Macroorchidism |
ORPHA:94083 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Resting tremor, Tremor, Focal EEG discharges with secondary generalization, Macroo... |
ORPHA:3077 |
Fetal Cytomegalovirus Syndrome |
|
Sensorineural hearing impairment, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly, Macrotia |
OMIM:300886 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Hyperactivity, Macroorchidism |
OMIM:300143 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Bilateral sensorineural hearing impairment, Macrotia |
OMIM:300238 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Shuffling gait, Inertia, Short step... |
ORPHA:412066 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking |
OMIM:619191 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Congenital macroorchidism, Macrotia |
OMIM:300624 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hyperactivity, Cryptorchidism, Micropenis, Hypospadias,... |
ORPHA:8 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Dystonia 12 |
|
Bradykinesia, Depression, Anxiety, Unsteady gait, Emotional lability |
OMIM:128235 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Anxiety, Bradykinesia |
OMIM:618878 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Tremor, Choreoathetosis, Male hypogonadism, Macrotia, Dystonia, EEG with generali... |
OMIM:300055 |
Huntington Disease-Like 2 |
|
Apathy, Bradykinesia, Depression, Anxiety, Irritability |
OMIM:606438 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Fragile X Syndrome |
|
Protruding ear, Attention deficit hyperactivity disorder, Macroorchidism |
ORPHA:908 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Hearing impairment, Attention deficit hyperactivity disorder, Macroorchidism |
ORPHA:284180 |
Lujan-Fryns Syndrome |
|
Low-set ears, Attention deficit hyperactivity disorder, Protruding ear, Macroorchidism |
ORPHA:776 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Macrotia |
ORPHA:1193 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Hyperactivity, Macroorchidism |
ORPHA:85327 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Macrotia |
ORPHA:85286 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Precocious puberty, Pancreatitis, Elevated ci... |
ORPHA:562 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... |
ORPHA:457083 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Polyembryoma |
|
Abdominal mass, Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum |
ORPHA:180229 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Anemia of inadequate production, Increased circulating gonado... |
ORPHA:91349 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Dystonia, Splenomegaly |
ORPHA:139406 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Overfolded helix, Macroorchidism, Cardiomegaly, Macrotia |
ORPHA:324410 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Trisomy 20P |
|
Abnormal antihelix morphology, Protruding ear, Abnormal autonomic nervous system physiology, Hypo... |
ORPHA:261318 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... |
ORPHA:320401 |
Glut1 Deficiency Syndrome 2 |
|
EEG abnormality, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia |
OMIM:612126 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... |
ORPHA:52901 |
Morm Syndrome |
|
Hyperactivity, Micropenis |
ORPHA:75858 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Low-set ears, Abnormally folded helix, Hyperactivity, Macroorchidism |
OMIM:309520 |
Galactosemia Iii |
|
Sensorineural hearing impairment, Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Leydig Cell Hypoplasia |
|
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, EEG abnormality, Hyperactivity, Hyperglycinuria |
OMIM:239500 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Hepatomegaly, Dystonia |
OMIM:615924 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... |
OMIM:614837 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Micropenis, Attention deficit hyperactivity disorder, Macrotia, Cryptorchidism |
OMIM:618504 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... |
OMIM:273250 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Atten... |
ORPHA:90674 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites |
ORPHA:1046 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism |
OMIM:618874 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... |
OMIM:266810 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Intention tremor, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Anemia |
OMIM:613313 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... |
ORPHA:91 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice |
OMIM:620010 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abnormal pinna morphology, Hyperactivity, Micropenis, Hypospadias, Tremor, Decreased testicular s... |
OMIM:300354 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Low-set ears, Thrombocytopenia, Dys... |
OMIM:610333 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Attention deficit hyperactivity disorder, Bone marrow hypoc... |
OMIM:619151 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, Hepatome... |
ORPHA:79330 |
Abcd Syndrome |
|
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... |
OMIM:600501 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Mastocy... |
ORPHA:66661 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Choreoathetosis, Renal insufficiency, Ne... |
ORPHA:79312 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Cryptorchidism, Micropenis, Hypospadias, Ureteral duplication, Hearing impairment,... |
OMIM:617516 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, External genital hypoplasia, Micropenis, Low-set, posteriorly rot... |
ORPHA:261534 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Tremor, Atte... |
ORPHA:206443 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Hearing impairment, Attention deficit hyperactivity disorder, Unilateral rena... |
OMIM:619950 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Hepatosplenomegal... |
OMIM:613101 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Jaundice |
OMIM:619658 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Hyperactivity, Unilateral renal agenesis, Gonadal dysgenesis, Low-set, poster... |
ORPHA:3306 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:99429 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Cryptorchidism, Anemia, Optic atrophy, Tremor,... |
ORPHA:90321 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile... |
OMIM:617394 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp... |
ORPHA:158057 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Sensorineural hearing impairment, Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome,... |
OMIM:146255 |
Carney Complex |
|
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... |
ORPHA:1359 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agen... |
OMIM:601076 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hurler-Scheie Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnorma... |
ORPHA:93476 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Abnormal helix morphology, Hepatomegaly, Cryptorchidism, Splenomegaly, Hepatosplenomegaly, Intrah... |
OMIM:614866 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Hearing impairment... |
OMIM:252920 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic dis... |
OMIM:611490 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Head ti... |
ORPHA:3240 |
Proteus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Splenomegaly, Narrow internal auditory canal, Neoplasm of the thy... |
ORPHA:744 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Perrault Syndrome 3 |
|
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Congenital sensorineural hearin... |
OMIM:614129 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Optic atrophy, Facial palsy, Thrombocytopenia |
OMIM:615085 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... |
ORPHA:400 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... |
ORPHA:99027 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... |
ORPHA:848 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenom... |
ORPHA:1655 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Hepatomega... |
OMIM:216400 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... |
OMIM:158330 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials |
OMIM:193700 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... |
OMIM:618892 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Choreoathetosis, Hyperactivity, Dystonia |
OMIM:612716 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Hearing impairment |
OMIM:252900 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... |
OMIM:613673 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... |
OMIM:216360 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cryptorchidism, Hyperactivity |
OMIM:614613 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... |
OMIM:133540 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Hepatomegaly, Splenomegaly, Microtia, Macroorchidism |
ORPHA:93 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... |
ORPHA:83628 |
Transaldolase Deficiency |
|
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Anemia, Cirrhosis, Hepatosplenomegaly, Hepati... |
OMIM:606003 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Asplenia, Pancreatic fibrosis, Hyperechogenic pancreas, Ma... |
OMIM:208540 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... |
ORPHA:101085 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut... |
OMIM:603909 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Cryptorchidism, Macrocytic anemia, Dilatation of renal calices, Attention deficit ... |
OMIM:614294 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... |
ORPHA:90793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Sensorineural hearing impairment, Proximal renal tubular acidosis, Cryptorchidism, Hyperactivity |
OMIM:615824 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Trisomy 10P |
|
EEG with focal spikes, Multiple renal cysts, Low voltage EEG, EEG with burst suppression, Absent ... |
ORPHA:171929 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... |
OMIM:616278 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Townes-Brocks Syndrome 2 |
|
Microtia, Overfolded helix, Hypospadias, Cupped ear, Bifid uterus, Crossed fused renal ectopia, R... |
OMIM:617466 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Precocious puberty, Hepatomegaly, Hyperactivity, EEG with generalized epil... |
ORPHA:163681 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
46,Xy Sex Reversal 4 |
|
Sensorineural hearing impairment, Sex reversal, Hypoplasia of the uterus, Microtia, Hypergonadotr... |
OMIM:154230 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... |
OMIM:602347 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Pancreatic ly... |
OMIM:235255 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... |
ORPHA:168558 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Multilobulated spleen, Bicornuate uterus, Renal hypopla... |
OMIM:601186 |
Perrault Syndrome 6 |
|
Sensorineural hearing impairment, Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... |
ORPHA:289548 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidne... |
ORPHA:2237 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Micropenis, Macrotia, Cryptorchidism, Microphallus, Small scrotum |
OMIM:300486 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Tremor, Decreased testicular size, Hypogonadism |
OMIM:201100 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Hyperactivity, Male urethral meatus stenosis, Acute monocytic ... |
ORPHA:137605 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... |
OMIM:194380 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Hearing impairment |
OMIM:252930 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:664 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials, Urinary incontinence |
ORPHA:206448 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hearing impair... |
OMIM:618440 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... |
ORPHA:909 |
X-Linked Intellectual Disability, Cabezas Type |
|
EEG abnormality, Hyperactivity, Hypoplasia of penis, Tremor, Decreased testicular size, Hypogonad... |
ORPHA:85293 |
Fanconi Anemia, Complementation Group L |
|
Microtia, Unilateral renal agenesis, Micropenis, Anemia, Anotia, Renal hypoplasia, Aplasia of the... |
OMIM:614083 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529799 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... |
ORPHA:3109 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Hepatomegaly, Vacuolated lymphocytes, Neutropenia, Macroorchidism |
OMIM:208400 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... |
OMIM:278000 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegaly, Cardiome... |
OMIM:268800 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hyperactivity, Cryptorchidism, T... |
OMIM:235510 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Scheie Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Mucopolysacchariduria, Abnormal ner... |
ORPHA:93474 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia,... |
OMIM:610199 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogonadism, External ear mal... |
ORPHA:251066 |
Chromosome 17Q12 Deletion Syndrome |
|
Protruding ear, Bilateral sensorineural hearing impairment, Unilateral renal agenesis, Ovarian cy... |
OMIM:614527 |
Mend Syndrome |
|
Low-set ears, Hyperactivity, Cryptorchidism, Abnormal auditory evoked potentials |
ORPHA:401973 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Optic atrophy, Hearing impairment, Prolonged b... |
ORPHA:206436 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatospleno... |
OMIM:618935 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... |
ORPHA:464329 |
Distal Trisomy 17Q |
|
Protruding ear, Hyperactivity, Accessory spleen, Low-set, posteriorly rotated ears, Cryptorchidis... |
ORPHA:3379 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferen... |
OMIM:137920 |
Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Hyperactivity, Cryptorchidism, Cupped ear, Aplastic anemia, Pa... |
OMIM:617052 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... |
OMIM:603903 |
Woodhouse-Sakati Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Hypoplasia of the uterus, Micropenis, Hypergona... |
OMIM:241080 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sensorineural hearing impairment, Hepatomegaly, Lymphopenia, Cryptorchidism, Splenomegaly, Anemia... |
OMIM:612541 |
Oeis Complex |
|
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... |
OMIM:258040 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Wilson Disease |
|
Hepatomegaly, Glycosuria, Tremor, Proteinuria, Limb dystonia, Portal fibrosis, Jaundice, Renal tu... |
OMIM:277900 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Optic disc pal... |
OMIM:615512 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Decreased nerve conduction velocity, Hemophagocytosis, Splenomegaly, Abnormal dense... |
OMIM:214500 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation |
OMIM:613027 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, male, Elevated circulating follicle stimulating ho... |
ORPHA:90796 |
Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... |
ORPHA:284339 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Sensorineural hearing impairment, Hyperactivity, Nocturia, Urinary urgency, Urinary hesitancy, Ur... |
OMIM:609727 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sensorineural hearing impairment, Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoim... |
ORPHA:760 |
Thrombocytopenia-Absent Radius Syndrome |
|
Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Horseshoe kidney, Aplasia of... |
ORPHA:3320 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Sensorineural hearing impairment, Histiocytosis, Hepatomegaly, Decreased response to growth hormo... |
OMIM:602782 |
Primary Lipodystrophy |
|
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis |
ORPHA:90970 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools |
OMIM:613812 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Hemoglobinuria, Anisocytosis, Poikilocytosis, Fava bean... |
OMIM:300908 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hydrocele testis, Chordee, Cryptorchidism, Imperforate hymen, Microtia, Exaggerated startle respo... |
OMIM:619522 |
Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Low-set, posteriorly rota... |
ORPHA:30 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Early Infantile Epileptic Encephalopathy |
|
EEG abnormality, Precocious puberty, EEG with spike-wave complexes, Hyperactivity, Micropenis, Ur... |
ORPHA:1934 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Polycystic kidney dysplasia, Hepatic fibrosis, Aplasia of the uterus, Low-se... |
OMIM:619879 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Increased urinary galactosylated oligosaccharide, Hepatosplenomegal... |
ORPHA:79255 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Woodhouse-Sakati Syndrome |
|
Protruding ear, Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, ... |
ORPHA:3464 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Exstrophy-Epispadias Complex |
|
Cystocele, Bifid scrotum, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Absent peni... |
ORPHA:322 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sensorineural hearing impairment, Aminoaciduria, Splenomegaly, Schistocytosis, B lymphocytopenia,... |
OMIM:616084 |
Cardiac-Urogenital Syndrome |
|
Micropenis, Bifid scrotum, Accessory spleen, Hepatopulmonary fusion, Unilateral cryptorchidism, E... |
OMIM:618280 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Optic nerve hypoplasia, Aplasia of the uterus, Aplasia ... |
ORPHA:457284 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Elliptocytosis 1 |
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Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Labial hypertrophy, C... |
OMIM:608594 |
Isolated Biliary Atresia |
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Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis, Atret... |
ORPHA:30391 |
Glycogen Storage Disease Xii |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm... |
OMIM:611881 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Ambiguous genitalia, Small scrotum, Cholestatic liver disease, Precocious puberty, ... |
OMIM:270400 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Hypsarrhythmia, Macrotia |
OMIM:615574 |
Lymphatic Malformation 6 |
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Hydrocele testis, Abnormal pinna morphology, Splenomegaly, Cupped ear, Intestinal lymphangiectasi... |
OMIM:616843 |
Tay-Sachs Disease |
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Precocious puberty, Laryngeal dystonia, Exaggerated startle response, Optic atrophy, Tremor, Hear... |
ORPHA:845 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... |
OMIM:271520 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
Familial Mediterranean Fever |
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Nephrotic syndrome, Pancreatitis, Orchitis, Splenomegaly, Peritonitis, Nephropathy, Proteinuria, ... |
ORPHA:342 |
Familial Mediterranean Fever |
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Nephrotic syndrome, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orchitis, Peritonitis... |
OMIM:249100 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Acute pancreatit... |
OMIM:269700 |
Stiff-Person Syndrome |
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Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Low-set, posteriorly rotated ears |
OMIM:618598 |
Argininemia |
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Oroticaciduria, Hepatomegaly, Micronodular cirrhosis, Hyperactivity, Diaminoaciduria, Cholestasis... |
OMIM:207800 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Protruding ear, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
Familial Gestational Hyperthyroidism |
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Goiter, Hyperactivity, Thyroid hyperplasia, Hand tremor |
ORPHA:99819 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Townes-Brocks Syndrome 1 |
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Sensorineural hearing impairment, Cryptorchidism, Microtia, Stahl ear, Hypospadias, Bifid uterus,... |
OMIM:107480 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Goiter, Hyperactivity, Thyroid hyperplasia, Hand tremor |
ORPHA:424 |
Plaa-Associated Neurodevelopmental Disorder |
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Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... |
ORPHA:521426 |
Parenteral Nutrition-Associated Cholestasis |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil... |
ORPHA:567983 |
Beckwith-Wiedemann Syndrome |
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Posterior helix pit, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged ki... |
ORPHA:116 |
Thrombocytopenia-Absent Radius Syndrome |
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Leukocytosis, Eosinophilia, Hepatosplenomegaly, Ureteral duplication, Horseshoe kidney, Aplasia o... |
OMIM:274000 |
Hydrolethalus Syndrome 1 |
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Abnormal vagina morphology, Abnormal pinna morphology, Hypospadias, Bifid uterus, Accessory splee... |
OMIM:236680 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Tyrosinemia, Type I |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urinary delta-aminolevu... |
OMIM:276700 |
Hyperthyroidism, Nonautoimmune |
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Goiter, Hyperactivity, Thyroid hyperplasia |
OMIM:609152 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Nephrolithiasis, Uterine prolapse, Precocious puberty, Cryptorchidism, Exaggerated startle respon... |
ORPHA:438213 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, External ear malformation, Exaggerated startle response |
ORPHA:438216 |
Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Low-set ears, Exaggerated startle response |
OMIM:617301 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Vaginal atresia, Low-set ears |
OMIM:617088 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Okamoto Syndrome |
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Low-set ears, Abnormal helix morphology, Splenomegaly, Bifid uterus, Ureteropelvic junction obstr... |
ORPHA:2729 |
Wolf-Hirschhorn Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, EEG a... |
OMIM:194190 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Sensorineural hearing impairment, Hyperactivity, Cryptorchidism, Micropenis, Microtia, Hypospadia... |
OMIM:309580 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Optic atrophy, Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:617527 |
Limb-Mammary Syndrome |
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Absent nipple, Protruding ear, Bilateral breast hypoplasia, Hypoplastic nipples, Breast aplasia, ... |
ORPHA:69085 |
Coffin-Siris Syndrome 1 |
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Low-set ears, Abnormal pinna morphology, Cryptorchidism, Hypospadias, Hydroureter, Renal hypoplas... |
OMIM:135900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Norrie Disease |
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Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Ute... |
ORPHA:649 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology |
ORPHA:1521 |
Ehlers-Danlos Syndrome, Vascular Type |
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Uterine prolapse, Absent earlobe, Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficie... |
OMIM:130050 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Abnormal pinna morphology, Anteriorly displaced genitalia, Cryptorchidism, Hypospadias, Hypoplast... |
OMIM:276820 |
Histidinemia |
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Histidinuria, Hyperactivity |
ORPHA:2157 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Cryptorchidism, Macrotia |
OMIM:256520 |
Vascular Ehlers-Danlos Syndrome |
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Bladder diverticulum, Protruding ear, Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, ... |
ORPHA:286 |
Pallister-Killian Syndrome |
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Low-set ears, Labial hypoplasia, Hypoplastic labia majora, Cryptorchidism, Supernumerary nipple, ... |
OMIM:601803 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |