| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... |
OMIM:612702 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Decreased testicular size |
OMIM:614880 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... |
OMIM:146110 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ... |
DECIPHER:39 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... |
OMIM:610628 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Asherman Syndrome |
|
Metrorrhagia, Miscarriage, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia, Hypogonadotropic hypogonadism |
OMIM:615266 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... |
OMIM:614858 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... |
OMIM:614897 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth ret... |
OMIM:616113 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... |
OMIM:616030 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Hypopituitarism, Anteverted nares, Short stature, De... |
OMIM:613038 |
| Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... |
OMIM:618841 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating... |
OMIM:614841 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary glan... |
OMIM:612079 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... |
OMIM:173100 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... |
OMIM:614839 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Short stature, Choanal atresia, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary a... |
OMIM:147950 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia, Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Ovarian Dysgenesis 4 |
|
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... |
OMIM:616185 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Anosmia, Delayed puberty |
OMIM:615270 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... |
OMIM:614837 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia, Delayed puberty |
OMIM:615271 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Crypt... |
ORPHA:398079 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Hypogonadotropic hypogonadism, De... |
ORPHA:90695 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Short stature, Decreased response to growth hormone... |
ORPHA:157954 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... |
OMIM:614842 |
| Sheehan Syndrome |
|
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... |
ORPHA:91355 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Septooptic Dysplasia |
|
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
OMIM:182230 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Anosmia, Absence of pubertal development |
OMIM:615267 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia, Short stature, Delayed puberty |
OMIM:274190 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia |
OMIM:244200 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... |
ORPHA:1135 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Prader-Willi Syndrome |
|
Narrow nasal bridge, Diabetes mellitus, Short stature, Decreased response to growth hormone stimu... |
ORPHA:739 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Decreased testicular size |
OMIM:614838 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Anosmia, Obesity, Increased serum leptin, Hyposmia |
OMIM:617885 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism |
OMIM:612370 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Septo-Optic Dysplasia Spectrum |
|
Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Diabetes insipidus, Cryptorchidi... |
ORPHA:3157 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, Incre... |
ORPHA:398069 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Abnormal nasal bone morphology, Hypogonadotropic hypogonadism, Proporti... |
ORPHA:54595 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Miscarriage, Amenorrhea |
ORPHA:99928 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... |
ORPHA:478 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo... |
OMIM:615849 |
| Bardet-Biedl Syndrome 19 |
|
Hyposmia, Hypogonadism, Obesity |
OMIM:615996 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased respons... |
ORPHA:95494 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Mcdonough Syndrome |
|
Short stature, Cachexia |
ORPHA:2471 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Increased mean platelet volume, Cryptorchidism, Abnormal cardiac septum morphology, ... |
OMIM:616737 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... |
ORPHA:231144 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Webb-Dattani Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
OMIM:619476 |
| Huntington Disease |
|
Decreased body mass index, Weight loss, Abnormal libido, Abnormality of the sense of smell |
ORPHA:399 |
| Fg Syndrome Type 1 |
|
Short stature, Choanal atresia, Prominent nose, Cryptorchidism, Small pituitary gland, Slender build |
ORPHA:93932 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
| Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
| Johnson Neuroectodermal Syndrome |
|
Severe short stature, Choanal atresia, Bulbous nose, Anosmia, Hypogonadism, Failure to thrive |
ORPHA:2316 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Attention deficit... |
OMIM:619151 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Cryptorchidism, Thrombocytopenia, Giant platelets, Left ventricular hypertrophy, Anemia |
OMIM:611209 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Ectopic posterior pituitary, Failure to thrive, Short stature, Adrenal hypoplas... |
ORPHA:95496 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Short stature, Choanal atresia, Decreased res... |
OMIM:147250 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Renpenning Syndrome |
|
Growth delay, Severe short stature, Cachexia |
ORPHA:3242 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
| Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Bifid nose, Hypo... |
ORPHA:1827 |
| Gorlin Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean plate... |
ORPHA:84064 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Unilateral cryptorchidism, Proportionate short stature, Anterior pituitar... |
OMIM:613457 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Splenomegal... |
OMIM:222470 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased ... |
OMIM:618187 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Wolman Disease |
|
Growth delay, Cachexia |
ORPHA:75233 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Tetrasomy 12P |
|
Short stature, Cachexia |
ORPHA:884 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Bardet-Biedl Syndrome 17 |
|
Hyposmia, Hypogonadism, Anosmia, Obesity |
OMIM:615994 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
| Deeah Syndrome |
|
Death in infancy, Short stature, Decreased response to growth hormone stimulation test, Anterior ... |
OMIM:619004 |
| Aredyld Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:1133 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia, Hypogonadotropic hypogonadism |
ORPHA:1295 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
| Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... |
OMIM:618014 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:371364 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... |
OMIM:617442 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia |
OMIM:618186 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
| Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Obesity, Int... |
ORPHA:813 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Short stature, Anteverted nares, Hypogonadotropic hypogonadism, Prominent no... |
ORPHA:177907 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Small pituitary gland, D... |
OMIM:619479 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Increased mean platelet volume, Abnormal heart morphology, Total anomalous pulmonary... |
ORPHA:487796 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Kleine-Levin Syndrome |
|
Decreased libido, Parosmia |
ORPHA:33543 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
| Hydrolethalus |
|
Cryptorchidism, Agenesis of corpus callosum, Abnormality of the sense of smell |
ORPHA:2189 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Short stature, Wide nasal bridge |
OMIM:210745 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism... |
ORPHA:3306 |
| 19Q13.11 Microdeletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia |
ORPHA:217346 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia, Short stature |
ORPHA:2057 |
| Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Recurrent hand f... |
OMIM:300624 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
| 8P11.2 Deletion Syndrome |
|
Depressed nasal bridge, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Gr... |
ORPHA:251066 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Abnormality of the sense of smell |
ORPHA:3201 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Posterior pituitary age... |
ORPHA:563612 |
| 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 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorch... |
ORPHA:2326 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Choanal atresia, Anterior pituitary hypoplasia, Dysplastic corpus callosum, Crypto... |
OMIM:151050 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Attention deficit hyperactivi... |
OMIM:620141 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Short stature, Anterior pituitary hypoplasia, Postnatal growth ret... |
OMIM:206900 |
| Hydranencephaly |
|
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia |
OMIM:144755 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Underdeveloped nasal alae, Diab... |
ORPHA:264200 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Holoprosencephaly 9 |
|
Short stature, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Ant... |
OMIM:610829 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Hirschsprung Disease |
|
Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Young-Onset Parkinson Disease |
|
Hyposmia, Female sexual dysfunction, Male sexual dysfunction |
ORPHA:2828 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Meacham Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Cryp... |
ORPHA:3097 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Short stature, Prominent nasal bridge, Narrow nasal tip, Anterior pituitary hypoplasia, Small for... |
ORPHA:464306 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Obesity, Cachexia |
ORPHA:85293 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Anosmia |
OMIM:243000 |
| Moebius Syndrome |
|
Breast aplasia, Death in infancy, Hypogonadotropic hypogonadism, Abnormality of the sense of smell |
ORPHA:570 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism, Delayed puberty |
OMIM:619718 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| 8Q21.11 Microdeletion Syndrome |
|
Cryptorchidism, Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell |
ORPHA:284160 |
| Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Anteverted nares, Choanal atresia, Fail... |
ORPHA:2162 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Cachexia |
OMIM:610965 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Anosmia, Single naris, Absent nares, Hypogonadism, Hyposmia |
ORPHA:2250 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
| 46,Xy Sex Reversal 1 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... |
OMIM:400044 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Erythrokeratodermia Variabilis |
|
Short stature, Weight loss |
ORPHA:317 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bursts of laughter |
ORPHA:391428 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Anterior pituitary hypoplasia, Prominent nose, Bilat... |
ORPHA:466791 |
| Kufor-Rakeb Syndrome |
|
Hyposmia, Anosmia |
OMIM:606693 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
| Acro-Renal-Mandibular Syndrome |
|
Intrauterine growth retardation, Abnormality of the sense of smell |
ORPHA:958 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Apla... |
OMIM:603457 |
| Refsum Disease, Classic |
|
Anosmia |
OMIM:266500 |
| Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia |
OMIM:601152 |
| Waardenburg Syndrome, Type 4C |
|
Hypogonadism, Cryptorchidism, Anosmia, Lacrimal gland hypoplasia |
OMIM:613266 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus |
ORPHA:3320 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia |
ORPHA:1969 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Prominent nose, Cr... |
OMIM:619503 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Leopard Syndrome 1 |
|
Short stature, Cryptorchidism, Aplasia of the ovary, Depressed nasal ridge, Hypoplasia of the ova... |
OMIM:151100 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Whipple Disease |
|
Cachexia |
ORPHA:3452 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Anteverted nares, Prominent nasal bridge, Short stature, Depressed nasal bridge, Broad nasal tip,... |
OMIM:619841 |
| Campomelic Dysplasia |
|
Depressed nasal bridge, Short stature, Abnormality of the sense of smell |
ORPHA:140 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
| 47,Xyy Syndrome |
|
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Attention ... |
ORPHA:8 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Trisomy 18 |
|
Growth delay, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:3380 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Refsum Disease |
|
Anosmia |
ORPHA:773 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Cachexia |
ORPHA:109 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Short st... |
ORPHA:90794 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Abnormality of the anterior pituitary, P... |
ORPHA:75389 |
| Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At... |
ORPHA:79330 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder |
OMIM:617914 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss |
ORPHA:1842 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss |
ORPHA:3208 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Corona... |
OMIM:614294 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Schwartz-Jampel Syndrome |
|
Short stature, Cachexia, Decreased body weight |
ORPHA:800 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... |
ORPHA:57777 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl... |
OMIM:601186 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hyposmia, Cryptorchidism, Obesity, Supernumerary nipple |
OMIM:618653 |
| Charge Syndrome |
|
Short stature, Choanal atresia, Depressed nasal bridge, Hypogonadotropic hypogonadism, Postnatal ... |
ORPHA:138 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul... |
ORPHA:465508 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Hereditary Late-Onset Parkinson Disease |
|
Hyposmia, Weight loss |
ORPHA:411602 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Dysphagia, Anemia |
OMIM:608013 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Growth delay, Cryptorchidism, Anosmia |
OMIM:609136 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Juvenile Polyposis Of Infancy |
|
Short stature, Cachexia |
ORPHA:79076 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Holocarboxylase Synthetase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79242 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Weight loss |
ORPHA:171876 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Obesity, Hypoplastic nipples, Axillar... |
OMIM:181450 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Cockayne Syndrome |
|
Severe short stature, Cachexia, Postnatal growth retardation, Growth delay, Delayed puberty |
ORPHA:191 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Nijmegen Breakage Syndrome |
|
Short stature, Cachexia |
ORPHA:647 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:47 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Amoebiasis Due To Free-Living Amoebae |
|
Hyposmia, Abnormality of the adrenal glands, Abnormal hypothalamus morphology |
ORPHA:68 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Inappropriate laughter, Cardiomegaly |
OMIM:618143 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Hypersexuality, Abn... |
ORPHA:581 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Anterior pituitary hypoplasia, Lateral v... |
OMIM:619534 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... |
OMIM:309801 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
| Wilson Disease |
|
Hyposmia, Hypoparathyroidism |
OMIM:277900 |
| Superficial Siderosis |
|
Anosmia, Partial anosmia |
ORPHA:247245 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:614083 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Duplication Of The Pituitary Gland |
|
Short stature, Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Decreased b... |
ORPHA:314621 |
| Camurati-Engelmann Disease |
|
Slender build, Cachexia, Delayed puberty |
ORPHA:1328 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Celiac Disease, Susceptibility To, 1 |
|
Short stature, Postnatal growth retardation, Weight loss, Delayed puberty, Failure to thrive |
OMIM:212750 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Secondary Short Bowel Syndrome |
|
Growth delay, Failure to thrive, Weight loss |
ORPHA:95427 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Growth delay, Cachexia, Delayed puberty |
ORPHA:2072 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Dysphagia, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Choanal atresia, Decreased response to growth ... |
OMIM:214800 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... |
OMIM:300967 |
| Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
| Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Obesity, Weight loss, Growth delay, Intrauterine growth retardation |
ORPHA:251071 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Apla... |
OMIM:274000 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Stickler Syndrome |
|
Slender build, Short stature, Cachexia |
ORPHA:828 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Occipital Horn Syndrome |
|
Abnormality of the sense of smell |
ORPHA:198 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Short Syndrome |
|
Severe short stature, Weight loss |
ORPHA:3163 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:354 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Cryptorchidism, Anosmia, Abnormal salivary gland morphology, Lacrimal gland aplasia |
ORPHA:2363 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Polycystic ovaries, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
| Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Failure to thrive, Weight loss |
OMIM:619487 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Primary Intestinal Lymphangiectasia |
|
Growth delay, Weight loss |
ORPHA:90362 |
| Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia |
ORPHA:14 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Norrie Disease |
|
Failure to thrive, Cachexia, Delayed puberty |
ORPHA:649 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Micropenis, Chronic lymph... |
ORPHA:51 |
| Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Polymyositis |
|
Weight loss |
ORPHA:732 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis, Clitora... |
OMIM:618419 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Dysphagia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:365 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Sple... |
OMIM:619991 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
| Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Apl... |
OMIM:194190 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Aggressive behavior, Cryptorchidism, Aplasia of the uteru... |
OMIM:135900 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Short stature, Weight loss |
OMIM:613673 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Thrombocytopenia |
OMIM:256040 |
| Immunodeficiency 31C |
|
Growth delay, Weight loss, Short stature, Delayed puberty |
OMIM:614162 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss |
ORPHA:85408 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Hypoplasia of penis, Overriding aorta, Bicuspid aortic valve, Ve... |
ORPHA:904 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Gonadoblastoma, Hypertrophic cardiomyop... |
ORPHA:116 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
| Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
| Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss |
ORPHA:370348 |
| Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Weight loss |
ORPHA:309031 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:199299 |
| Thymoma |
|
Weight loss |
ORPHA:99867 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Intrauterine growth retardation, Failure to thrive, Weight loss |
ORPHA:99885 |
| Mucolipidosis Type Ii |
|
Postnatal growth retardation, Short stature, Weight loss |
ORPHA:576 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
| Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
| Acute Adrenal Insufficiency |
|
Weight loss, Failure to thrive, Delayed puberty |
ORPHA:95409 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
| Pyomyositis |
|
Weight loss |
ORPHA:764 |
| Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
| Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Lynch Syndrome |
|
Weight loss |
ORPHA:144 |
| Riddle Syndrome |
|
Short stature, Weight loss |
ORPHA:420741 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
| Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
| Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
| Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
| Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
| Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
| Caroli Disease |
|
Weight loss |
ORPHA:53035 |
| Q Fever |
|
Weight loss |
ORPHA:781 |
| Addison Disease |
|
Weight loss, Failure to thrive, Delayed puberty |
ORPHA:85138 |
| Cystinosis, Nephropathic |
|
Short stature, Failure to thrive in infancy, Weight loss, Growth delay, Delayed puberty |
OMIM:219800 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
| Castleman Disease |
|
Weight loss |
ORPHA:160 |
| Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
| Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
| Aicardi-Goutieres Syndrome 7 |
|
Intrauterine growth retardation, Weight loss |
OMIM:615846 |
| Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
| Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
| Fanconi Anemia |
|
Growth delay, Intrauterine growth retardation, Short stature, Weight loss |
ORPHA:84 |
| Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
| Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
| Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Primary Fanconi Renotubular Syndrome |
|
Growth delay, Weight loss |
ORPHA:3337 |
| Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
| Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Mitral valve prolapse, U... |
ORPHA:286 |
| Ppoma |
|
Weight loss |
ORPHA:97278 |
| Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
| Brucellosis |
|
Failure to thrive, Small for gestational age, Weight loss |
ORPHA:1304 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
| Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
| Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
| Grfoma |
|
Weight loss |
ORPHA:97261 |
| Vipoma |
|
Weight loss |
ORPHA:97282 |
| Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia majora, ... |
OMIM:601803 |
| Glucagonoma |
|
Weight loss |
ORPHA:97280 |
| Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
| Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Behçet Disease |
|
Weight loss |
ORPHA:117 |
| Dermatomyositis |
|
Weight loss |
ORPHA:221 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Delayed menarche, Weight loss |
ORPHA:740 |
| Nocardiosis |
|
Weight loss |
ORPHA:31204 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
| Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
| Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
| Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
| Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
| Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss |
ORPHA:99889 |
| Sarcoidosis |
|
Weight loss |
ORPHA:797 |
| Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
| African Trypanosomiasis |
|
Weight loss |
ORPHA:3385 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
