| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, P... |
OMIM:612702 |
| Mulibrey Nanism |
|
Short stature, Intrauterine growth retardation, Cachexia |
ORPHA:2576 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Anosmia, Decreased testicular size, Cryptorchidism, Primary amenorrhea |
OMIM:614880 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hy... |
OMIM:146110 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Anosmia, Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hyp... |
OMIM:610628 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Anosmia, Hypogonadism, Reduced response to gonadotropin-releasing horm... |
OMIM:616030 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Anosmia, Hypogonadism, Decreased serum testosterone concentration, Dec... |
OMIM:614897 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hyposmia |
OMIM:615266 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... |
OMIM:614858 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... |
OMIM:618157 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Anosmia, Decreased serum testosterone concentration, Hypothalamic gona... |
OMIM:618841 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Anosmia, Decreased circulating gonadotropin concentration, Decreased s... |
OMIM:614841 |
| Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... |
OMIM:618160 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary ameno... |
OMIM:614839 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone... |
OMIM:613038 |
| Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... |
OMIM:612079 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... |
OMIM:173100 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... |
ORPHA:453533 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level |
OMIM:619009 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... |
OMIM:617443 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Anosmia, Choanal atresia, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypogonad... |
OMIM:147950 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Hyposmia, Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia, Absence of pubertal development, Decreased testicular size, Azoospermia, Cryptorchidism,... |
OMIM:614837 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Anosmia, Delayed puberty |
OMIM:615270 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Anosmia, Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gona... |
OMIM:308700 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Anosmia, Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal... |
OMIM:619755 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... |
OMIM:616185 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Pituitary Carcinoma |
|
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... |
ORPHA:300385 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... |
ORPHA:231720 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... |
OMIM:221750 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidis... |
OMIM:308750 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Depressed nasal ridge, Growth delay, Ectopic anterior pituitary glan... |
ORPHA:90695 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia, Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteiniz... |
OMIM:614842 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Delayed puberty, Hyposmia |
OMIM:615271 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short stature, Short nose |
OMIM:302950 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure ... |
ORPHA:398079 |
| Ane Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormalit... |
ORPHA:1135 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Absence of pubertal development, Anosmia |
OMIM:615267 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Pelger-Huet Anomaly |
|
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen... |
OMIM:169400 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Growth delay, Absence of secondary sex characte... |
ORPHA:2232 |
| Ziegler-Huang Syndrome |
|
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... |
OMIM:620501 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Hyposmia |
OMIM:244200 |
| Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Anterior pitu... |
OMIM:182230 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Short stature, Anosmia, Delayed puberty |
OMIM:274190 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Decreased testicular size, Hypogonadotropic hypogonadism, Bifid nose, Hyposmia |
OMIM:614838 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism |
OMIM:612370 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Increased serum leptin, Obesity, Hyperinsulinemia, Hyposmia |
OMIM:617885 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... |
OMIM:618096 |
| Craniopharyngioma |
|
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesi... |
ORPHA:54595 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Hypogonadis... |
ORPHA:398069 |
| Placental Site Trophoblastic Tumor |
|
Amenorrhea, Metrorrhagia, Miscarriage |
ORPHA:99928 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Agenesis of... |
ORPHA:226307 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:98754 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Depressed nasal ridge, Ectopic anterior... |
ORPHA:95494 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity, Hyposmia |
OMIM:615996 |
| Kallmann Syndrome |
|
Anosmia, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Decr... |
ORPHA:478 |
| Septo-Optic Dysplasia Spectrum |
|
Anosmia, Obesity, Cryptorchidism, Agenesis of corpus callosum, Maternal diabetes, Anterior pituit... |
ORPHA:3157 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:98793 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... |
ORPHA:91347 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:177904 |
| Premature Ovarian Failure 22 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... |
OMIM:620548 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:177901 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... |
ORPHA:231144 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Mcdonough Syndrome |
|
Short stature, Cachexia |
ORPHA:2471 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Abnormal cardiac septum morphology, Thrombocytopenia, Hypospadias, Pulmonic steno... |
OMIM:616737 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Meningioma |
|
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu... |
ORPHA:2495 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... |
ORPHA:67045 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... |
ORPHA:95619 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Huntington Disease |
|
Abnormal libido, Weight loss, Abnormality of the sense of smell, Decreased body mass index |
ORPHA:399 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Cryptorchidism, Left ventricular hypertrophy, Thrombocytopenia, Anemia, Hypospadias |
OMIM:611209 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... |
OMIM:619476 |
| Johnson Neuroectodermal Syndrome |
|
Severe short stature, Choanal atresia, Anosmia, Failure to thrive, Hypogonadism, Bulbous nose |
ORPHA:2316 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
| Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| 46,Xy Sex Reversal 11 |
|
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Death in infancy, Hypothyroidism,... |
ORPHA:95496 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... |
OMIM:102200 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Choanal atresia, Slender build, Prominent nose, Cryptorchidism, Short stature |
ORPHA:93932 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Intrauterine growth retardation, Cachexia |
OMIM:616801 |
| Renpenning Syndrome |
|
Severe short stature, Cachexia, Growth delay |
ORPHA:3242 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Galactose Epimerase Deficiency |
|
Weight loss, Growth delay |
ORPHA:79238 |
| Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Midnasal stenosi... |
OMIM:147250 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... |
OMIM:615926 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
| Syndromic Diarrhea |
|
Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, Splenomegaly, Ventricular septal def... |
ORPHA:84064 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Trichohepatoenteric Syndrome 1 |
|
Tetralogy of Fallot, Splenomegaly, Ventricular septal defect, Thrombocytosis, Hepatomegaly, Hypos... |
OMIM:222470 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Adrenocorticotropin deficient adrenal insufficiency... |
ORPHA:293978 |
| Wolman Disease |
|
Cachexia, Growth delay |
ORPHA:75233 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Tetrasomy 12P |
|
Short stature, Cachexia |
ORPHA:884 |
| Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele... |
OMIM:618187 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Anosmia, Obesity, Hyposmia |
OMIM:615994 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Acromelic Frontonasal Dysplasia |
|
Bifid nasal tip, Broad nasal tip, Hypopituitarism, Thick nasal alae, Cryptorchidism, Agenesis of ... |
ORPHA:1827 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morphology, Short nose |
ORPHA:1295 |
| Aredyld Syndrome |
|
Short stature, Intrauterine growth retardation, Cachexia |
ORPHA:1133 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Growth delay |
ORPHA:30925 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Elevated circulating thyroid-stimul... |
OMIM:613457 |
| Congenital Toxoplasmosis |
|
Anemia, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Short stature, Severe failure to thrive, Cachexia, Intrauterine growth retardation |
ORPHA:371364 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Short stature |
ORPHA:702 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:618014 |
| Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Intrauterine growth re... |
OMIM:619004 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Neonatal death |
OMIM:618186 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
| Prader-Willi Syndrome Due To Translocation |
|
Broad nasal tip, Lateral ventricle dilatation, Decreased response to growth hormone stimulation t... |
ORPHA:177907 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Thrombocytopenia, Hypospadias... |
ORPHA:487796 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Kleine-Levin Syndrome |
|
Decreased libido, Parosmia |
ORPHA:33543 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intrauterine growth retardat... |
ORPHA:813 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
| Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Depressed nasal bridge, Wide nasal bridge, Disproportionate short-limb sho... |
OMIM:619479 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Amed Syndrome, Digenic |
|
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of the uterus |
OMIM:619151 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
| 19Q13.11 Microdeletion Syndrome |
|
Intrauterine growth retardation, Cachexia, Growth delay, Failure to thrive |
ORPHA:217346 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
| X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Wide nasal bridge, Anosmia, Short stature |
OMIM:210745 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Short stature, Anosmia |
ORPHA:2057 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Second... |
OMIM:617565 |
| 8P11.2 Deletion Syndrome |
|
Anosmia, Depressed nasal bridge, Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... |
ORPHA:251066 |
| Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Abnormality of the sense of smell |
ORPHA:3201 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadi... |
ORPHA:2326 |
| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
| Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
| Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
| Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
| Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Choanal atresia, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Agenesis of ... |
OMIM:151050 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Isolated Exencephaly |
|
Depressed nasal bridge, Agenesis of corpus callosum, Maternal diabetes, Anterior pituitary hypopl... |
ORPHA:563612 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Hydranencephaly |
|
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Intrauterine ... |
ORPHA:2177 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
| Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypog... |
OMIM:206900 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... |
OMIM:618280 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... |
ORPHA:3097 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Hydrolethalus |
|
Cryptorchidism, Abnormality of the sense of smell, Agenesis of corpus callosum |
ORPHA:2189 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
| Majeed Syndrome |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg... |
OMIM:235200 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Hyperostosis Cranialis Interna |
|
Anosmia, Hyposmia |
OMIM:144755 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss, Growth delay |
OMIM:266600 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... |
OMIM:614324 |
| Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... |
OMIM:608747 |
| Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Male sexual dysfunction, Hyposmia |
ORPHA:2828 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss, Short stature |
ORPHA:388 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Atr... |
ORPHA:3109 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Ciliary Dyskinesia, Primary, 1 |
|
Anosmia, Nasal polyposis, Male infertility, Chronic rhinitis |
OMIM:244400 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... |
OMIM:256550 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Cachexia, Obesity |
ORPHA:85293 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism |
OMIM:619718 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| 14Q22Q23 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Agenesis of corpus callosum, Adrenal hypoplasia, Anter... |
ORPHA:264200 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Anosmia, Hyposmia |
OMIM:243000 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Cardiomegaly, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Breast hypoplasia, Intrauterine growth retardation, Narrow nasal tip, Prominen... |
ORPHA:464306 |
| Moebius Syndrome |
|
Breast aplasia, Hypogonadotropic hypogonadism, Death in infancy, Abnormality of the sense of smell |
ORPHA:570 |
| Seckel Syndrome |
|
Short stature, Intrauterine growth retardation, Cachexia |
ORPHA:808 |
| Xfe Progeroid Syndrome |
|
Severe short stature, Cachexia, Failure to thrive |
OMIM:610965 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anosmia, Hyposmia, Hypogonadism, Cryptorchidism, Absent nares, Single naris |
ORPHA:2250 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
| Infantile Krabbe Disease |
|
Cachexia, Failure to thrive |
ORPHA:206436 |
| Erythrokeratodermia Variabilis |
|
Short stature, Weight loss |
ORPHA:317 |
| 46,Xy Sex Reversal 1 |
|
Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Abnorma... |
OMIM:400044 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
| Holoprosencephaly |
|
Choanal atresia, Depressed nasal ridge, Anosmia, Aplasia/Hypoplasia involving the nose, Failure t... |
ORPHA:2162 |
| Gorlin Syndrome |
|
Wide nasal bridge, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hypogonadi... |
ORPHA:377 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology, Thrombocytopenia |
ORPHA:3320 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Kufor-Rakeb Syndrome |
|
Anosmia, Hyposmia |
OMIM:606693 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:803 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
| Acro-Renal-Mandibular Syndrome |
|
Intrauterine growth retardation, Abnormality of the sense of smell |
ORPHA:958 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Choanal atresia, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Apla... |
OMIM:603457 |
| 8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sense of smell, Wide nose |
ORPHA:284160 |
| Waardenburg Syndrome, Type 4C |
|
Hypogonadism, Anosmia, Cryptorchidism, Lacrimal gland hypoplasia |
OMIM:613266 |
| Reticular Dysgenesis |
|
Weight loss, Failure to thrive |
ORPHA:33355 |
| Bardet-Biedl Syndrome |
|
Irregular menstruation, Depressed nasal bridge, Hypogonadism, Decreased testicular size, Obesity,... |
ORPHA:110 |
| Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Choanal atresia, Broad nasal tip, Depressed nasal bridge, Single nar... |
OMIM:610829 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Central Diabetes Insipidus |
|
Weight loss, Failure to thrive |
ORPHA:178029 |
| Refsum Disease, Classic |
|
Anosmia |
OMIM:266500 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia |
OMIM:601152 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... |
ORPHA:3427 |
| Leopard Syndrome 1 |
|
Depressed nasal ridge, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ... |
OMIM:151100 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia |
ORPHA:1969 |
| Whipple Disease |
|
Cachexia |
ORPHA:3452 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Campomelic Dysplasia |
|
Short stature, Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Small pituitary gland, Depressed nasal bridge, Failure to thrive, Decreased response to growth ho... |
OMIM:619503 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Epistaxis, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Prominent nasal bridge, Int... |
OMIM:619841 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Failure to thrive, Supernumerary nipple, Bilateral cryptorchidism, Slender build, Narrow nasal br... |
ORPHA:466791 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri... |
ORPHA:79330 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Trisomy 18 |
|
Short stature, Intrauterine growth retardation, Cachexia, Growth delay |
ORPHA:3380 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias |
OMIM:616897 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Refsum Disease |
|
Anosmia |
ORPHA:773 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Uterus didelphys, Abnormal heart morphology, Septate vagina, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Cachexia |
ORPHA:109 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Intrauterine growth retardation, Weight loss, Proportionate short stature |
ORPHA:3208 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Intrauterine growth retardation, Abnormality of the ant... |
ORPHA:75389 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Severe short-limb dwarfism, Weight loss, Failure to thrive |
ORPHA:1842 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Decreased fertility, Weight loss, Abnormal circulating dehydroepiandrostero... |
ORPHA:90794 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia |
OMIM:617718 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Ventricular ... |
OMIM:601186 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
| Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... |
OMIM:618278 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus |
OMIM:615300 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Schwartz-Jampel Syndrome |
|
Short stature, Cachexia, Decreased body weight |
ORPHA:800 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Testicul... |
ORPHA:465508 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology |
ORPHA:247768 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:275761 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:168558 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Azoospermia, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, ... |
OMIM:602782 |
| Charge Syndrome |
|
Choanal atresia, Anosmia, Depressed nasal bridge, Postnatal growth retardation, Intrauterine grow... |
ORPHA:138 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Hyposmia |
ORPHA:411602 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:289548 |
| Juvenile Polyposis Of Infancy |
|
Short stature, Cachexia |
ORPHA:79076 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss, Proportionate short stature |
ORPHA:171876 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Cockayne Syndrome |
|
Severe short stature, Postnatal growth retardation, Cachexia, Delayed puberty, Growth delay |
ORPHA:191 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... |
ORPHA:432 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss, Growth delay |
ORPHA:79242 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Obesity, Hypo... |
OMIM:181450 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Cryptorchidism, Hyposmia, Supernumerary nipple |
OMIM:618653 |
| Nijmegen Breakage Syndrome |
|
Short stature, Cachexia |
ORPHA:647 |
| X-Linked Agammaglobulinemia |
|
Short stature, Weight loss, Failure to thrive |
ORPHA:47 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... |
OMIM:202010 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia, Growth delay, Cryptorchidism |
OMIM:609136 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:608013 |
| Graves Disease |
|
Weight loss |
OMIM:275000 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Single ventricle |
OMIM:619879 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:96191 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular septal defect, Ovotestis, Chordee,... |
OMIM:309801 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... |
ORPHA:90796 |
| Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Abnormality of the adrenal glands, Hyposmia |
ORPHA:68 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Depressed nasal bridge, Failure to thrive, Lateral ventricle dilatation, Anteverted nares, Neonat... |
OMIM:619534 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Superficial Siderosis |
|
Anosmia, Partial anosmia |
ORPHA:247245 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Duplication Of The Pituitary Gland |
|
Agenesis of corpus callosum, Abnormal hypothalamus morphology, Decreased body weight, Short statu... |
ORPHA:314621 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Growth delay, Failure to thrive |
ORPHA:95427 |
| Camurati-Engelmann Disease |
|
Slender build, Cachexia, Delayed puberty |
ORPHA:1328 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
| Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Postnatal growth retardation, Weight loss, Delayed puberty, Short stature |
OMIM:212750 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Delayed puberty, Growth delay |
ORPHA:2072 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Charge Syndrome |
|
Choanal atresia, Anosmia, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased res... |
OMIM:214800 |
| Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, Cardiomegal... |
OMIM:620376 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Wilson Disease |
|
Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
| 8P23.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Obesity, Weight loss, Short stature, Growth delay |
ORPHA:251071 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... |
ORPHA:64744 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular... |
OMIM:274000 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
| Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... |
OMIM:130650 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy |
OMIM:608836 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Stickler Syndrome |
|
Short stature, Slender build, Cachexia |
ORPHA:828 |
| Occipital Horn Syndrome |
|
Abnormality of the sense of smell |
ORPHA:198 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Wilson Disease |
|
Hypoparathyroidism, Hyposmia |
OMIM:277900 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Short Syndrome |
|
Severe short stature, Weight loss |
ORPHA:3163 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Gm1 Gangliosidosis |
|
Short stature, Weight loss, Failure to thrive |
ORPHA:354 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Cystocele, Cryptorchidism, B... |
ORPHA:322 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo... |
OMIM:300855 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Acrodermatitis Enteropathica |
|
Short stature, Weight loss, Failure to thrive |
ORPHA:37 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Anemia |
OMIM:614083 |
| Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries |
ORPHA:137675 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive |
ORPHA:92050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... |
OMIM:300967 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Failure to thrive |
OMIM:256700 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age |
ORPHA:424 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Splenomegal... |
ORPHA:2729 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Short stature, Intrauterine growth retardation, Weight loss |
OMIM:301310 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, A... |
ORPHA:581 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Growth delay |
ORPHA:90362 |
| Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Weight loss, Failure to thrive |
OMIM:619487 |
| Abetalipoproteinemia |
|
Acanthocytosis, Reticulocytosis, Cardiomegaly, Hepatomegaly, Anemia |
ORPHA:14 |
| Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Splenic cyst, Cardiomegaly, Cryptorchidism, Patent foramen ovale |
OMIM:620371 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Norrie Disease |
|
Cachexia, Delayed puberty, Failure to thrive |
ORPHA:649 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:252500 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly... |
ORPHA:51 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Anosmia, Cryptorchidism, Lacrimal gland aplasia, Abnormal salivary gland morphology |
ORPHA:2363 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular... |
OMIM:236680 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Imerslund-Gräsbeck Syndrome |
|
Weight loss, Failure to thrive |
ORPHA:35858 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Polymyositis |
|
Weight loss |
ORPHA:732 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... |
OMIM:241080 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitora... |
OMIM:618419 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
| Lymphoid Interstitial Pneumonia |
|
Weight loss, Failure to thrive |
ORPHA:79128 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent foramen ovale, Ventricular... |
OMIM:619991 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Anemia, Cerv... |
OMIM:130050 |
| Osteootohepatoenteric Syndrome |
|
Weight loss, Failure to thrive |
OMIM:619377 |
| Familial Glucocorticoid Deficiency |
|
Weight loss, Failure to thrive |
ORPHA:361 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def... |
ORPHA:3472 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Immunodeficiency 31C |
|
Short stature, Weight loss, Delayed puberty, Growth delay |
OMIM:614162 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
| Woodhouse-Sakati Syndrome |
|
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... |
ORPHA:3464 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Splenomegaly, Cardiomegaly, Thrombocytopenia, Hepatomegaly, Epididymitis |
OMIM:256040 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
| Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Short stature, Weight loss |
OMIM:613673 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Hypertrophic cardiomyopathy, Cryptorchidism, Splenomegaly, Cardiomeg... |
ORPHA:116 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Mild postnatal growth retardation |
ORPHA:85408 |
| Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Intrauterine growth retardation, Weight loss, Failure to thrive |
ORPHA:99885 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
| Late-Onset Isolated Acth Deficiency |
|
Weight loss, Failure to thrive |
ORPHA:199299 |
| Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
| Mucolipidosis Type Ii |
|
Short stature, Postnatal growth retardation, Weight loss |
ORPHA:576 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Growth delay |
ORPHA:309031 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:365 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Cryptorchidism, Ventricular septal defect, Aplasia of the u... |
OMIM:194190 |
| Thymoma |
|
Weight loss |
ORPHA:99867 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Atrial septal defe... |
OMIM:107480 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
| Adult-Onset Still Disease |
|
Weight loss |
ORPHA:829 |
| Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter... |
OMIM:256520 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss |
ORPHA:370348 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Failure to thrive |
ORPHA:1018 |
| Acute Adrenal Insufficiency |
|
Weight loss, Delayed puberty, Failure to thrive |
ORPHA:95409 |
| Neuroblastoma |
|
Weight loss |
ORPHA:635 |
| Pyomyositis |
|
Weight loss |
ORPHA:764 |
| Williams Syndrome |
|
Precocious puberty, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Mitral valv... |
ORPHA:904 |
| Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aplasia of ... |
OMIM:135900 |
| Insulin-Resistance Syndrome Type B |
|
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
| Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
| Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias |
OMIM:137920 |
| Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
| Riddle Syndrome |
|
Short stature, Weight loss |
ORPHA:420741 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
| Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
| Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
| Cystinosis, Nephropathic |
|
Failure to thrive, Failure to thrive in infancy, Weight loss, Delayed puberty, Short stature, Gro... |
OMIM:219800 |
| Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... |
OMIM:201750 |
| Caroli Disease |
|
Weight loss |
ORPHA:53035 |
| Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Castleman Disease |
|
Weight loss |
ORPHA:160 |
| Q Fever |
|
Weight loss |
ORPHA:781 |
| Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
| Aicardi-Goutieres Syndrome 7 |
|
Intrauterine growth retardation, Weight loss |
OMIM:615846 |
| Addison Disease |
|
Weight loss, Delayed puberty, Failure to thrive |
ORPHA:85138 |
| Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
| Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
| Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
| Fanconi Anemia |
|
Short stature, Intrauterine growth retardation, Weight loss, Growth delay |
ORPHA:84 |
| Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
| Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
| Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Peters Plus Syndrome |
|
Hypoplastic left heart, Cryptorchidism, Pulmonic stenosis, Abnormal cardiac septum morphology, Hy... |
ORPHA:709 |
| Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias |
OMIM:276820 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
| Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Failure to thrive |
ORPHA:2020 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Abnormal heart valve morphology, Cystocele, Cryptorchidism, Uterine prolapse, Mi... |
ORPHA:286 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss, Growth delay |
ORPHA:3337 |
| Peters-Plus Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Hypoplasia of the vagina, Pu... |
OMIM:261540 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small scrotum, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular se... |
OMIM:601803 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Ppoma |
|
Weight loss |
ORPHA:97278 |
| Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
| Brucellosis |
|
Weight loss, Small for gestational age, Failure to thrive |
ORPHA:1304 |
| Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
| Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
| Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
| Vipoma |
|
Weight loss |
ORPHA:97282 |
| Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
| Grfoma |
|
Weight loss |
ORPHA:97261 |
| Glucagonoma |
|
Weight loss |
ORPHA:97280 |
| Lynch Syndrome |
|
Weight loss |
ORPHA:144 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification |
ORPHA:51608 |
| Behçet Disease |
|
Weight loss |
ORPHA:117 |
| Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss, Delayed menarche |
ORPHA:740 |
| Nocardiosis |
|
Weight loss |
ORPHA:31204 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
| Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
| Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
| Dermatomyositis |
|
Weight loss |
ORPHA:221 |
| Systemic Lupus Erythematosus |
|
Weight loss |
ORPHA:536 |
| Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
| Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
| Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity |
ORPHA:99889 |
| Sarcoidosis |
|
Weight loss |
ORPHA:797 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
| African Trypanosomiasis |
|
Weight loss |
ORPHA:3385 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
