| Severe Primary Trimethylaminuria |
|
|
ORPHA:468726 |
| Mental Retardation, Autosomal Recessive 25 |
|
|
OMIM:614346 |
| Panic Disorder 1 |
|
|
OMIM:167870 |
| Major Affective Disorder 1 |
|
|
OMIM:125480 |
| Prolactin Deficiency, Isolated |
|
|
OMIM:264110 |
| Intellectual Developmental Disorder, X-Linked 63 |
|
|
OMIM:300387 |
| Obsessive-Compulsive Disorder |
|
|
OMIM:164230 |
| Persistent Idiopathic Facial Pain |
|
|
ORPHA:398147 |
| Premature Ovarian Failure 1 |
|
|
OMIM:311360 |
| Hyperprolactinemia |
|
|
OMIM:615555 |
| Premature Ovarian Failure 9 |
|
|
OMIM:615724 |
| Invasive Mole |
|
|
ORPHA:99925 |
| Geniospasm 1 |
|
|
OMIM:190100 |
| Familial Alzheimer-Like Prion Disease |
|
|
ORPHA:280397 |
| Endometriosis, Susceptibility To, 1 |
|
|
OMIM:131200 |
| Premature Ovarian Failure 19 |
|
|
OMIM:619245 |
| Adenomyosis |
|
|
OMIM:600458 |
| Premature Ovarian Failure 11 |
|
|
OMIM:616946 |
| Amenorrhea-Galactorrhea Syndrome |
|
|
OMIM:104600 |
| Leydig Cell Hypoplasia, Type I |
|
|
OMIM:238320 |
| Post-Traumatic Pituitary Deficiency |
|
|
ORPHA:95619 |
| Ovarian Dysgenesis 1 |
|
|
OMIM:233300 |
| Premature Ovarian Failure 14 |
|
|
OMIM:618014 |
| Pituicytoma |
|
|
ORPHA:251623 |
| Premature Ovarian Failure 15 |
|
|
OMIM:618096 |
| Premature Ovarian Failure 13 |
|
|
OMIM:617442 |
| Premature Ovarian Failure 8 |
|
|
OMIM:615723 |
| Premature Ovarian Failure 5 |
|
|
OMIM:611548 |
| Functioning Gonadotropic Adenoma |
|
|
ORPHA:91348 |
| Chorea, Benign Hereditary |
|
|
OMIM:118700 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
|
OMIM:262600 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
|
ORPHA:399805 |
| Hypogonadism-Cataract Syndrome |
|
|
OMIM:240950 |
| Asherman Syndrome |
|
|
ORPHA:137686 |
| Gordon Holmes Syndrome |
|
|
OMIM:212840 |
| Premature Ovarian Failure 2A |
|
|
OMIM:300511 |
| Premature Ovarian Failure 17 |
|
|
OMIM:619146 |
| Premature Ovarian Failure 6 |
|
|
OMIM:612310 |
| Hypogonadotropic Hypogonadism 24 Without Anosmia |
|
|
OMIM:229070 |
| Premature Ovarian Failure 16 |
|
|
OMIM:618723 |
| Non-Functioning Pituitary Adenoma |
|
|
ORPHA:91349 |
| Premature Ovarian Failure 18 |
|
|
OMIM:619203 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
|
ORPHA:2410 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
|
ORPHA:494541 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
|
OMIM:300123 |
| Myoclonus-Dystonia Syndrome |
|
|
ORPHA:36899 |
| Familial Hyperprolactinemia |
|
|
ORPHA:397685 |
| Dystonia 11, Myoclonic |
|
|
OMIM:159900 |
| Premature Ovarian Failure 10 |
|
|
OMIM:612885 |
| Adenohypophysitis |
|
|
ORPHA:95512 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
|
ORPHA:399808 |
| Panhypophysitis |
|
|
ORPHA:95513 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
|
ORPHA:2235 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
|
OMIM:300888 |
| Premature Ovarian Failure 7 |
|
|
OMIM:612964 |
| Bonnemann-Meinecke-Reich Syndrome |
|
|
ORPHA:1261 |
| Pandas |
|
|
ORPHA:66624 |
| Ovarian Dysgenesis 3 |
|
|
OMIM:614324 |
| Isolated Growth Hormone Deficiency, Type Ib |
|
|
OMIM:612781 |
| Spermatogenic Failure 28 |
|
|
OMIM:618086 |
| Gangliocytoma |
|
|
ORPHA:251937 |
| Pituitary Dwarfism With Large Sella Turcica |
|
|
OMIM:262710 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
|
ORPHA:91354 |
| Placental Site Trophoblastic Tumor |
|
|
ORPHA:99928 |
| Leptin Receptor Deficiency |
|
|
OMIM:614963 |
| Hyperostosis Frontalis Interna |
|
|
OMIM:144800 |
| Ovarian Dysgenesis 8 |
|
|
OMIM:618187 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
|
OMIM:173100 |
| Hypersecretion Of Adrenal Androgens, Familial |
|
|
OMIM:145295 |
| Pituitary Adenoma 1, Multiple Types |
|
|
OMIM:102200 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
|
OMIM:262400 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
|
ORPHA:99832 |
| Parkinsonism With Polyneuropathy |
|
|
OMIM:619279 |
| 46,Xy Sex Reversal 11 |
|
|
OMIM:273250 |
| Pituitary Apoplexy |
|
|
ORPHA:95613 |
| Glucocorticoid Resistance, Generalized |
|
|
OMIM:615962 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
|
OMIM:264120 |
| Huntington Disease-Like 2 |
|
|
OMIM:606438 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
|
ORPHA:52901 |
| Sheehan Syndrome |
|
|
ORPHA:91355 |
| Ane Syndrome |
|
|
ORPHA:157954 |
| Cortisone Reductase Deficiency 1 |
|
|
OMIM:604931 |
| Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies |
|
|
OMIM:208080 |
| Non-Acquired Panhypopituitarism |
|
|
ORPHA:90695 |
| Perrault Syndrome 6 |
|
|
OMIM:617565 |
| Polycystic Ovary Syndrome 1 |
|
|
OMIM:184700 |
| Oliver-Mcfarlane Syndrome |
|
|
OMIM:275400 |
| Isolated Growth Hormone Deficiency, Type V |
|
|
OMIM:618160 |
| Mehmo Syndrome |
|
|
OMIM:300148 |
| Prolactinoma |
|
|
ORPHA:2965 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
|
OMIM:614839 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
|
ORPHA:231720 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
|
ORPHA:168563 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
|
OMIM:618157 |
| Premature Ovarian Failure 3 |
|
|
OMIM:608996 |
| Androgen Insensitivity Syndrome |
|
|
OMIM:300068 |
| 46,Xy Sex Reversal 1 |
|
|
OMIM:400044 |
| Joubert Syndrome 26 |
|
|
OMIM:616784 |
| Dystonia 26, Myoclonic |
|
|
OMIM:616398 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
|
OMIM:609734 |
| Perrault Syndrome 2 |
|
|
OMIM:614926 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
|
OMIM:614837 |
| Early-Onset Schizophrenia |
|
|
ORPHA:96369 |
| Perrault Syndrome 4 |
|
|
OMIM:615300 |
| Pituitary Dermoid And Epidermoid Cysts |
|
|
ORPHA:91351 |
| Perrault Syndrome 1 |
|
|
OMIM:233400 |
| Pseudohypoparathyroidism Type 1C |
|
|
ORPHA:79444 |
| X-Linked Intellectual Disability, Van Esch Type |
|
|
ORPHA:163976 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
|
ORPHA:95494 |
| Hypogonadotropic Hypogonadism 23 Without Anosmia |
|
|
OMIM:228300 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
|
OMIM:614858 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
|
OMIM:221750 |
| Meningioma |
|
|
ORPHA:2495 |
| 46,Xx Gonadal Dysgenesis |
|
|
ORPHA:243 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
|
ORPHA:90793 |
| Precocious Puberty, Central, 1 |
|
|
OMIM:176400 |
| Growth Hormone Deficiency, Isolated Partial |
|
|
OMIM:615925 |
| Gestational Choriocarcinoma |
|
|
ORPHA:99926 |
| 49,Xxxyy Syndrome |
|
|
ORPHA:261534 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
|
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
|
ORPHA:71526 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
|
ORPHA:226307 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
|
OMIM:618841 |
| Gray Platelet Syndrome |
|
|
ORPHA:721 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
|
OMIM:300869 |
| 49,Xyyyy Syndrome |
|
|
ORPHA:99330 |
| Leydig Cell Hypoplasia |
|
|
ORPHA:755 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
|
OMIM:225755 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
|
OMIM:615286 |
| Pseudohypoparathyroidism Type 1A |
|
|
ORPHA:79443 |
| X-Linked Intellectual Disability, Cilliers Type |
|
|
ORPHA:163971 |
| Adrenocortical Carcinoma |
|
|
ORPHA:1501 |
| Frasier Syndrome |
|
|
ORPHA:347 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
|
ORPHA:457240 |
| Hydatidiform Mole |
|
|
ORPHA:99927 |
| Pituitary Carcinoma |
|
|
ORPHA:300385 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
|
ORPHA:91350 |
| Tsh-Secreting Pituitary Adenoma |
|
|
ORPHA:91347 |
| 4H Leukodystrophy |
|
|
ORPHA:289494 |
| 47,Xyy Syndrome |
|
|
ORPHA:8 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
|
OMIM:616430 |
| Complete Androgen Insensitivity Syndrome |
|
|
ORPHA:99429 |
| Estrogen Resistance Syndrome |
|
|
ORPHA:785 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
|
ORPHA:98754 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
|
ORPHA:280679 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
|
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
|
ORPHA:177904 |
| Septooptic Dysplasia |
|
|
OMIM:182230 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
|
ORPHA:177901 |
| Pseudohypoparathyroidism Type 1B |
|
|
ORPHA:94089 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
|
ORPHA:2795 |
| Central Precocious Puberty |
|
|
ORPHA:759 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
|
OMIM:618922 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
|
OMIM:110100 |
| Wolfram Syndrome 2 |
|
|
OMIM:604928 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
|
OMIM:245590 |
| Myasthenic Syndrome, Congenital, 22 |
|
|
OMIM:616224 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
|
OMIM:300845 |
| Prader-Willi-Like Syndrome |
|
|
ORPHA:398073 |
| Carney Complex |
|
|
ORPHA:1359 |
| African Trypanosomiasis |
|
|
ORPHA:3385 |
| Gomez-Lopez-Hernandez Syndrome |
|
|
OMIM:601853 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
|
ORPHA:2232 |
| Partial Androgen Insensitivity Syndrome |
|
|
ORPHA:90797 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
|
ORPHA:90796 |
| Myotonic Dystrophy 2 |
|
|
OMIM:602668 |
| Hypotonia-Cystinuria Syndrome |
|
|
OMIM:606407 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
|
ORPHA:67045 |
| Williams-Beuren Region Duplication Syndrome |
|
|
OMIM:609757 |
| Galloway-Mowat Syndrome 6 |
|
|
OMIM:618347 |
| Juberg-Hayward Syndrome |
|
|
OMIM:216100 |
| 46,Xy Partial Gonadal Dysgenesis |
|
|
ORPHA:251510 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
|
ORPHA:96179 |
| Rhyns Syndrome |
|
|
OMIM:602152 |
| Boomerang Dysplasia |
|
|
ORPHA:1263 |
| 46,Xy Sex Reversal 5 |
|
|
OMIM:613080 |
| 16P12.1P12.3 Triplication Syndrome |
|
|
ORPHA:485405 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
|
OMIM:614732 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
|
OMIM:277000 |
| Temple Syndrome |
|
|
ORPHA:254516 |
| Prader-Willi Syndrome |
|
|
OMIM:176270 |
| Prader-Willi Syndrome |
|
|
ORPHA:739 |
| Alstrom Syndrome |
|
|
OMIM:203800 |
| Noonan Syndrome 12 |
|
|
OMIM:618624 |
| 46,Xy Sex Reversal 3 |
|
|
OMIM:612965 |
| 46,Xx Sex Reversal 1 |
|
|
OMIM:400045 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
|
ORPHA:572333 |
| Pallister-Hall Syndrome |
|
|
ORPHA:672 |
| Intellectual Disability-Strabismus Syndrome |
|
|
ORPHA:363528 |
| Webb-Dattani Syndrome |
|
|
OMIM:615926 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
|
OMIM:101800 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
|
OMIM:601427 |
| Srd5A3-Cdg |
|
|
ORPHA:324737 |
| Glucagonoma |
|
|
ORPHA:97280 |
| Steinert Myotonic Dystrophy |
|
|
ORPHA:273 |
| Hymen, Imperforate |
|
|
OMIM:237100 |
| Tbck-Related Intellectual Disability Syndrome |
|
|
ORPHA:488632 |
| Interstitial Cystitis |
|
|
ORPHA:37202 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
|
ORPHA:436174 |
| Prader-Willi Syndrome Due To Translocation |
|
|
ORPHA:177907 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
|
ORPHA:293987 |
| Woodhouse-Sakati Syndrome |
|
|
ORPHA:3464 |
| Fanconi Anemia, Complementation Group I |
|
|
OMIM:609053 |
| Cohen Syndrome |
|
|
OMIM:216550 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
|
ORPHA:289548 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
|
OMIM:616007 |
| Solitary Median Maxillary Central Incisor |
|
|
OMIM:147250 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
|
ORPHA:168558 |
| Fanconi Anemia, Complementation Group W |
|
|
OMIM:617784 |
| Deeah Syndrome |
|
|
OMIM:619004 |
| Ritscher-Schinzel Syndrome 1 |
|
|
OMIM:220210 |
| Ppoma |
|
|
ORPHA:97278 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
|
ORPHA:3044 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
|
OMIM:241410 |
| Aarskog-Scott Syndrome |
|
|
OMIM:305400 |
| Grfoma |
|
|
ORPHA:97261 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
|
OMIM:610978 |
| Vipoma |
|
|
ORPHA:97282 |
| Wiedemann-Steiner Syndrome |
|
|
ORPHA:319182 |
| Immunodeficiency, Common Variable, 10 |
|
|
OMIM:615577 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
|
ORPHA:293978 |
| Somatostatinoma |
|
|
ORPHA:97283 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
|
OMIM:618336 |
| Silver-Russell Syndrome 1 |
|
|
OMIM:180860 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
|
OMIM:213980 |
| Semilobar Holoprosencephaly |
|
|
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
|
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
|
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
|
ORPHA:93924 |
| 15Q24 Microdeletion Syndrome |
|
|
ORPHA:94065 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
|
OMIM:307200 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
|
OMIM:264475 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
|
ORPHA:95699 |
| Helsmoortel-Van Der Aa Syndrome |
|
|
OMIM:615873 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
|
OMIM:618419 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
|
OMIM:619234 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
|
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
|
ORPHA:363958 |
| Acrootoocular Syndrome |
|
|
ORPHA:2980 |
| Ovarian Hyperstimulation Syndrome |
|
|
ORPHA:64739 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
|
ORPHA:268261 |
| Chromosome 18Q Deletion Syndrome |
|
|
OMIM:601808 |
| Acrodysostosis With Multiple Hormone Resistance |
|
|
ORPHA:280651 |
| Spondyloenchondrodysplasia |
|
|
ORPHA:1855 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
|
OMIM:602782 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
|
ORPHA:1772 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
|
ORPHA:99413 |
| Turner Syndrome |
|
|
ORPHA:881 |
| Mosaic Monosomy X |
|
|
ORPHA:99228 |
| Monosomy X |
|
|
ORPHA:99226 |
| Pallister-Hall Syndrome |
|
|
OMIM:146510 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
|
OMIM:617260 |
| Van Esch-O'Driscoll Syndrome |
|
|
OMIM:301030 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
|
OMIM:614114 |
| Holoprosencephaly 9 |
|
|
OMIM:610829 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
|
OMIM:618223 |
| Fanconi Anemia, Complementation Group F |
|
|
OMIM:603467 |
| Xq21 Microdeletion Syndrome |
|
|
ORPHA:1435 |
| Meier-Gorlin Syndrome 6 |
|
|
OMIM:616835 |
| Testicular Agenesis |
|
|
ORPHA:325124 |
| Seckel Syndrome 10 |
|
|
OMIM:617253 |
| Eec Syndrome |
|
|
ORPHA:1896 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
|
ORPHA:96182 |
| Witteveen-Kolk Syndrome |
|
|
OMIM:613406 |
| Monosomy 18Q |
|
|
ORPHA:1600 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
|
OMIM:604292 |
| Gabriele-De Vries Syndrome |
|
|
ORPHA:506358 |
| Shwachman-Diamond Syndrome |
|
|
ORPHA:811 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
|
OMIM:129900 |
| Pearson Syndrome |
|
|
ORPHA:699 |
| Charge Syndrome |
|
|
OMIM:214800 |
| Wiedemann-Rautenstrauch Syndrome |
|
|
ORPHA:3455 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
|
ORPHA:444077 |
| Lysinuric Protein Intolerance |
|
|
ORPHA:470 |
| Alström Syndrome |
|
|
ORPHA:64 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
|
OMIM:180500 |
