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Gene: Trp73 MGI:1336991

Gene Summary

Name:

transformation related protein 73

Synonyms:

deltaNp73, TAp73, p73

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
thrombocytosis	Trp73^em1(IMPC)H	HET	Early adult	7.67×10^-05
decreased spleen weight	Trp73^em1(IMPC)H	HET	Early adult	1.64×10^-07
increased eosinophil cell number	Trp73^em1(IMPC)H	HET	Early adult	2.99×10^-05
increased blood urea nitrogen level	Trp73^em1(IMPC)H	HET	Early adult	3.57×10^-05
preweaning lethality, incomplete penetrance	Trp73^em1(IMPC)H	HOM	Early adult	0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Trp73 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Trp73 (1 diseases)
Human diseases predicted to be associated with Trp73 (2037 diseases)

The table below shows human diseases associated to Trp73 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 47, And Lissencephaly		Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Bronchiec...	OMIM:619466

The table below shows human diseases predicted to be associated to Trp73 by phenotypic similarity.

Disease	Matching phenotypes	Source
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Fibromatosis, Gingival, 1	Gingival fibromatosis	OMIM:135300
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Fibromatosis, Gingival, With Progressive Deafness	Gingival fibromatosis	OMIM:135550
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Hereditary Gingival Fibromatosis	Gingival fibromatosis	ORPHA:2024
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Fibromatosis, Gingival, 5	Gingival fibromatosis	OMIM:617626
Immunodeficiency 88	Eosinophilia	OMIM:619630
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Desmoid Disease, Hereditary	Desmoid tumors, Breast carcinoma	OMIM:135290
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Holoprosencephaly 5	Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Synophrys, H...	OMIM:609637
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Epicanthus, Aganglionic megacolon, Polyhydramnios, Intr...	OMIM:613603
Primary Ciliary Dyskinesia	Chronic otitis media, Conductive hearing impairment, Abnormal sperm motility, Male infertility, N...	ORPHA:244
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Pontocerebellar Hypoplasia, Type 13	Recurrent respiratory infections, Epicanthus, Anteverted nares, Edema, Asthma, Volvulus, Overfold...	OMIM:618606
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses...	OMIM:244400
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Sensorineural hearing impa...	OMIM:616430
Milroy Disease	Angiosarcoma, Hydrocele testis, Neoplasm of the skin	ORPHA:79452
Bazex Syndrome	Neoplasm, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Cheilitis Glandularis	Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma	ORPHA:1221
Martsolf Syndrome 2	Cataract, Hypogonadotropic hypogonadism, Broad nasal tip, Developmental cataract, Lateral ventric...	OMIM:619420
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Anteverted nares, Depressed nasal bridge, Feeding difficulties, Upslant...	OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Anteverted nares, Eczema, Highly arched eyebrow, Prominent nasal bridge...	OMIM:617751
Autosomal Agammaglobulinemia	Sinusitis, Sepsis, Dehydration, Conjunctivitis, High palate, Cough, Chronic otitis media, Meningi...	ORPHA:33110
Polyrrhinia	Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph...	ORPHA:141091
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Cach Syndrome	Cataract, Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Feeding difficult...	ORPHA:135
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Bulbous nose, Optic atrophy...	OMIM:615219
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Small for gestational age, Partial agenesis of the corpus callosum...	ORPHA:79243
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Koolen-De Vries Syndrome Due To A Point Mutation	Nasogastric tube feeding in infancy, Protruding ear, Thick nasal alae, Agenesis of corpus callosu...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Nasogastric tube feeding in infancy, Protruding ear, Thick nasal alae, Agenesis of corpus callosu...	ORPHA:363958
Thakker-Donnai Syndrome	Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Macrotia, ...	ORPHA:1780
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Polyhydramnios, Large for gestational age, Bilateral cryptorchidism, Dilated third ventricle, Abs...	ORPHA:544488
Ciliary Dyskinesia, Primary, 9	Male infertility, Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasa...	OMIM:612444
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Anteverted nares, Depressed nasa...	OMIM:610015
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections, Arthritis, Conjunctiv...	OMIM:601457
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti...	ORPHA:572
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Epicanthus, Depressed nasal bridge...	ORPHA:2268
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Hec Syndrome	Communicating hydrocephalus, Polyhydramnios, Abnormal retinal vascular morphology, Abnormal pupil...	ORPHA:2119
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu...	OMIM:615482
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ...	OMIM:614034
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Recurrent viral infections, Abdominal pain, Intraventricu...	ORPHA:420741
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Abdominal pain, Perior...	OMIM:142680
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Leptin Receptor Deficiency	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Recurrent ...	OMIM:614963
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation, Anteverted nares	OMIM:300982
Bainbridge-Ropers Syndrome	Polyhydramnios, Micrognathia, Synophrys, Periorbital fullness, Choanal stenosis, Vomiting, Gastro...	OMIM:615485
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Hooded eyelid, Uplifte...	OMIM:619841
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Patent ductus arteriosus, Lateral ventricle dilatation, Low-set ears, Long palpebra...	OMIM:618330
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Activated Pi3K-Delta Syndrome	Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Severe cytom...	ORPHA:397596
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Epicanthus, Long nose, Patent ductus arteriosus, Anomalou...	ORPHA:2184
Aspergillosis	Sinusitis, Intracranial hemorrhage, Periorbital fullness, Cough, Meningitis, Infectious encephali...	ORPHA:1163
Pontocerebellar Hypoplasia, Type 1A	Feeding difficulties in infancy, Intercostal muscle weakness, Respiratory insufficiency, Degenera...	OMIM:607596
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Abdominal pai...	ORPHA:2070
Zygomycosis	Fasciitis, Sinusitis, Rhinorrhea, Periorbital edema, Acute infectious pneumonia, Periorbital full...	ORPHA:73263
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Intellectual Developmental Disorder, Autosomal Dominant 56	Sensorineural hearing impairment, Feeding difficulties, Upslanted palpebral fissure, Protruding e...	OMIM:617854
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Dextrotransposi...	OMIM:619995
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Christianson Syndrome	Mandibular prognathia, Thick eyebrow, Cachexia, Abnormality of the nose, Feeding difficulties in ...	ORPHA:85278
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:615481
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Abnormal pinna morphology, Polyhydramnios, Micrognathia, Respiratory insufficiency...	OMIM:618291
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Periorbital edema, Abnormal lacrimal ...	ORPHA:141083
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Alg2-Cdg	Epicanthus, Cataract, Wide nasal bridge, Lateral ventricle dilatation, Downslanted palpebral fiss...	ORPHA:79326
Mannose-Binding Lectin Deficiency	Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ...	OMIM:614372
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 6	Male infertility, Abnormality of male external genitalia, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation, Premature ovarian insufficiency, Depression	OMIM:615889
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Hooded eyelid, High, narrow palate, Anteriorly placed anus, High palate, In...	OMIM:612863
Netherton Syndrome	Hypernatremic dehydration, Recurrent respiratory infections, Villous atrophy, Recurrent skin infe...	OMIM:256500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Adams-Oliver Syndrome 2	Depressed nasal bridge, Micrognathia, Hydrocephalus, Bulbous nose, Optic atrophy, Developmental c...	OMIM:614219
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Telecanthus, Failure to thrive, Anteverted nares, Apnea, Posteriorly...	ORPHA:2462
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Cachexia, Malabsorpti...	ORPHA:3452
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Lateral ventricle dilatation, Depression	ORPHA:306669
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Polyhydramnios, Micrognathia	OMIM:618266
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Respiratory distress, Depressed nasal bridge, Anteverted nares, Poly...	OMIM:618188
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Mandibular prognathia, Otitis media, Depressed nasal bridge, Highly ...	ORPHA:309282
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ...	ORPHA:47612
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Dural Sinus Malformation	Nausea and vomiting, Papilledema, Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhag...	ORPHA:97339
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Cataract, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Congenital ptosis, Flar...	ORPHA:280679
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Abnormal pinna morphology, Micrognathia, Rec...	ORPHA:3078
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Wide nasal bridge, Cleft palate, Upslanted palpebral fissure, Large earlobe, Lat...	OMIM:615716
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias	OMIM:247640
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Bronchiectasis, D...	OMIM:618063
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Sensor...	ORPHA:47
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Severe sensor...	OMIM:604213
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Autosomal Dominant Severe Congenital Neutropenia	Pharyngitis, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ...	ORPHA:486
Hypotonia, Infantile, With Psychomotor Retardation	Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation	OMIM:616816
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Pa...	OMIM:618300
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Bul...	ORPHA:1237
Proteus-Like Syndrome	Communicating hydrocephalus, Mandibular prognathia, Cataract, Anteverted nares, Venous insufficie...	ORPHA:2969
Scedosporiosis	Sinusitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusual skin infec...	ORPHA:449280
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Joubert Syndrome 3	Central apnea, Enlarged fossa interpeduncularis, Epicanthus, Anteverted nares, Episodic tachypnea...	OMIM:608629
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, Atopic derma...	OMIM:603165
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Depressed nasal bridge, Failure to thrive in infancy, Micrognathia, Feeding difficulties in infan...	ORPHA:284417
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma	ORPHA:2762
Bloom Syndrome	Recurrent herpes, Poor appetite, Micrognathia, Severe varicella zoster infection, Uveitis, Gastro...	ORPHA:125
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Poor appetite, Gastrointestinal dysmotility, Vomiting,...	ORPHA:298
Trichinellosis	Skin rash, Facial palsy, Abnormal cerebrospinal fluid morphology, Edema, Facial edema, Trismus, P...	ORPHA:863
Alg13-Cdg	Abnormal lateral ventricle morphology, Anteverted nares, Decreased body weight	ORPHA:324422
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Intraventricular hemorrhage, Cleft palate, Recurrent infections, Feeding difficulties,...	ORPHA:79284
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Immunodeficiency, Common Variable, 2	Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Re...	OMIM:240500
Paroxysmal Hemicrania	Nausea and vomiting, Palpebral edema, Rhinorrhea, Focal sensory seizure with olfactory features, ...	ORPHA:157835
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, No...	OMIM:618699
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Sepsis, Dehydration, Vomiting, Nephrit...	ORPHA:2552
Mcdonough Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Cachexia, Underdeveloped nasal alae, Pr...	ORPHA:2471
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Cerebrospinal fluid rhinorrhoea, Pulmon...	ORPHA:183675
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recu...	OMIM:616726
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Facial edema, Nonproductive cough, Fulminant hepatitis, Odynophag...	ORPHA:319213
Meige Disease	Angiosarcoma, Pleural effusion	ORPHA:90186
Isochromosomy Yq	Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,...	OMIM:615444
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Diarrhea, Recurrent pneumonia...	ORPHA:277
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Hepatic failu...	ORPHA:331
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge, Feeding difficulties	OMIM:614019
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma	ORPHA:296
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Pseudo-Torch Syndrome 2	Ventriculomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Patent ductus arterio...	OMIM:617397
Ciliary Dyskinesia, Primary, 18	Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rh...	OMIM:614874
Zika Virus Disease	Maculopapular exanthema, Skin rash, Abnormal cerebrospinal fluid morphology, Subcutaneous hemorrh...	ORPHA:448237
Crouzon Syndrome	Choanal atresia, Convex nasal ridge, Hearing impairment, Hypoplasia of the maxilla, Hydrocephalus...	ORPHA:207
Tularemia	Respiratory distress, Pharyngitis, Tachycardia, Brain abscess, Skin rash, Pneumonia, Erythema nod...	ORPHA:3392
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu...	ORPHA:36382
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Cachexia, Bronchiectasis, A...	ORPHA:60033
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Feeding difficulties, Subep...	ORPHA:25
Ciliary Dyskinesia, Primary, 34	Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B...	OMIM:617091
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Dyspnea, Bronchi...	ORPHA:662
American Trypanosomiasis	Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Edema, Myo...	ORPHA:3386
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Microretrognathia, Anteverted nares, Hydrocephalus, Optic atrophy, Recurrent i...	OMIM:300884
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas...	OMIM:613662
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Respiratory insufficiency, Abno...	ORPHA:97229
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Conductive hearing impairment, Respiratory failure, Depressed nasal ...	ORPHA:1861
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Cataract, Anteverted nares, Depressed nasal bridge, Bulbous nose, Feeding difficultie...	OMIM:614105
Granulomatosis With Polyangiitis	Sinusitis, Periorbital edema, Otitis media, Cough, Chronic otitis media, Meningitis, Abdominal pa...	ORPHA:900
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Inappropriate behavior, Eup...	OMIM:221770
Diencephalic Syndrome	Cachexia, Hydrocephalus, Optic atrophy, Decreased body weight, Macrotia	ORPHA:1672
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:612649
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Decreased nerve conduction velocity, ...	ORPHA:85446
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Telecanthus, Corneal opacity, Anteverted nares, Depressed nasal brid...	ORPHA:1064
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Respiratory insufficiency, Feeding difficulties	OMIM:617668
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Abnormal nasal bone morphology, Hypogonadotropic hypogonad...	ORPHA:54595
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Immotile cil...	OMIM:614935
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Mandibular prognathia, Ventriculomegaly, Low-set, posteriorly rotate...	ORPHA:457359
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila...	OMIM:619517
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Posteriorly rotated ears, High palate, Prominent supraorbital ridges, Low-set ears, C...	OMIM:619548
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Apnea, Micrognathia, Subependymal cysts, Cardiomyopathy, Lateral ventricle ...	OMIM:600721
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections...	ORPHA:70593
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M...	ORPHA:83471
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra...	ORPHA:411696
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Protein-losing enteropathy, Recurrent otitis...	OMIM:613502
Hurler Syndrome	Recurrent respiratory infections, Corneal opacity, Anteverted nares, Depressed nasal bridge, Angi...	ORPHA:93473
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno...	ORPHA:2494
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Depression, Intracranial hemor...	ORPHA:136
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Abnormal retinal vascular morpho...	ORPHA:33226
Solar Urticaria	Edema, Periorbital edema, Dyspnea, Abnormal tongue morphology, Wheezing, Angioedema, Syncope, Nausea	ORPHA:97230
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Gabriele-De Vries Syndrome	Telecanthus, Posteriorly rotated ears, Aortopulmonary collateral arteries, Facial hypotonia, Broa...	OMIM:617557
Pineocytoma	Nausea and vomiting, Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology	ORPHA:251912
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Ciliary Dyskinesia, Primary, 45	Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis	OMIM:618801
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N...	ORPHA:2591
H Syndrome	Abnormal eyebrow morphology, Psoriasiform dermatitis, Malabsorption, Recurrent pharyngitis, Hydro...	ORPHA:168569
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus...	OMIM:613493
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Micrognathia, Orbital craniosynostosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis m...	OMIM:612692
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Protein-losing enteropathy, Cond...	OMIM:235510
Dengue Fever	Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo...	ORPHA:99828
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Polyhydramnios, Developmental cataract	OMIM:600559
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Alexander Disease Type I	Cachexia, Hydrocephalus, Vomiting, Dysphagia, Failure to thrive	ORPHA:363717
Immunodeficiency, Common Variable, 1	Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunc...	OMIM:607594
Wyburn-Mason Syndrome	Nausea and vomiting, Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morp...	ORPHA:53719
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Thickened...	ORPHA:293725
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchiti...	OMIM:300455
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Vomiting	ORPHA:77299
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Malabsorption, Obesity, A...	OMIM:300310
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect...	OMIM:611884
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Failure to thrive, Depressed nasal bridge, Overweight, High, na...	OMIM:619575
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Conjunctivitis, Chronic oral candid...	OMIM:616740
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Immunodeficiency 102	Recurrent skin infections, Severe varicella zoster infection, Recurrent upper respiratory tract i...	OMIM:301082
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Paganini-Miozzo Syndrome	Mandibular prognathia, Posteriorly rotated ears, Feeding difficulties, Lateral ventricle dilatati...	OMIM:301025
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Abnormal conjunctiva morphology, Gastrointestinal infarctions, Strok...	OMIM:602248
Distal Deletion 10Q	Prominent nose, Micrognathia, Protruding ear, High palate, Spina bifida occulta, Patent ductus ar...	ORPHA:96148
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Congenital Hydrocephalus	Posteriorly rotated ears, Hydrocephalus, Bulbous nose, Optic atrophy, Sensorineural hearing impai...	ORPHA:2185
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Poor suck, Optic nerve hypoplasia, Gastrostomy tube feeding in infancy	OMIM:618890
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Renpenning Syndrome	Mandibular prognathia, Decreased testicular size, Epicanthus, Cataract, Cachexia, Prominent nose,...	ORPHA:3242
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum...	OMIM:608647
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Micrognathia, Protrud...	OMIM:242860
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Non-Functioning Paraganglioma	Hypertensive retinopathy, Pulsatile tinnitus, Cerebral hemorrhage, Nausea, Congestive heart failu...	ORPHA:94080
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Abdominal pain, Pericardial effusion, Angi...	ORPHA:36412
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon	ORPHA:401986
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Liposarcoma	Sarcoma	ORPHA:69078
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Lateral ventricle dilatation, Downslanted palpebral fissures, Spina bifid...	OMIM:618736
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Ptosis	OMIM:619972
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Polyhydramnios, Cryptorchidism, Sensorineural hearing impairment, Feed...	OMIM:619847
Tenorio Syndrome	Mandibular prognathia, Telecanthus, Ventriculomegaly, Anteverted nares, Wide nose, Apnea, Raynaud...	OMIM:616260
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Malan Overgrowth Syndrome	Optic disc pallor, Depressed nasal bridge, Feeding difficulties in infancy, Lateral ventricle dil...	ORPHA:420179
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Diarrhea, Increased CSF lactate, Weight loss, Feeding difficultie...	OMIM:612075
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Conductive hearing impairment, Papilledema, Recurrent ear infections...	ORPHA:580
Atypical Teratoid Rhabdoid Tumor	Nausea and vomiting, Irritability, Hydrocephalus	ORPHA:99966
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Nasogastric tube feeding in infancy, Temporomandibul...	ORPHA:141152
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Epicanthus, Cachexia, Micrognathia, Hearing impairment...	OMIM:618186
Lassa Fever	Abnormal bleeding, Pharyngitis, Shock, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Fac...	ORPHA:99824
1Q21.1 Microduplication Syndrome	Cataract, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux, Failure to...	ORPHA:250994
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Peroxisome Biogenesis Disorder 6A (Zellweger)	Feeding difficulties in infancy, Wide nasal bridge, Colpocephaly, Decreased liver function, Low-s...	OMIM:614870
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Hydrocephalus, Periodontitis, Hearing impairment	ORPHA:1008
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Polyhydramnios, Micrognathia, Periorbital fullness, Gastroesophageal reflux, High palate, Medial ...	OMIM:619833
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp...	OMIM:613845
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Severe varicella zoster infection, T...	ORPHA:36234
Wells Syndrome	Eosinophilia	ORPHA:901
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the...	OMIM:243700
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect...	OMIM:617092
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Noonan Syndrome 14	Aortic regurgitation, Epicanthus, Lacrimal duct stenosis, Prominent nasal bridge, Posteriorly rot...	OMIM:619745
Bilateral Generalized Polymicrogyria	Oral-pharyngeal dysphagia, Feeding difficulties, Lateral ventricle dilatation, Gastroesophageal r...	ORPHA:208447
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he...	OMIM:304790
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Pericarditis, Recurrent urinary tract infections, Chilblains, Portal hyperten...	OMIM:619487
Angioedema, Hereditary, 8	Abdominal pain, Facial edema, Laryngeal edema, Diarrhea, Edema of the dorsum of hands, Angioedema...	OMIM:619367
Degcags Syndrome	Polyhydramnios, Prominent nose, Micrognathia, Oral-pharyngeal dysphagia, Synophrys, Gastroesophag...	OMIM:619488
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Mandibular prognathia, Posteriorly rotated ears, Prominent nasal bri...	OMIM:617011
Ciliary Dyskinesia, Primary, 37	Hearing impairment, Female infertility, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhin...	OMIM:617577
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem...	ORPHA:326
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly	OMIM:618999
Combined Immunodeficiency, X-Linked	Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media	OMIM:312863
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Recurrent urinary tract infections...	OMIM:619229
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Mirage Syndrome	Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus...	OMIM:617053
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas...	ORPHA:727
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Cataract, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy,...	OMIM:300845
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti...	OMIM:614700
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Epicanthus, Anteverted nares, Prominent nasal bridge, Cachexia, Prominent nose, Failure to thrive...	OMIM:616801
Joubert Syndrome 14	Encephalocele, Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Highly arched eyebro...	OMIM:614424
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Lacrimal Duct Defect	Sinusitis, Periorbital edema, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Epicanthus, Optic nerve hypoplasia, Micrognathia, Feeding difficulties in infancy, Bilateral ptos...	ORPHA:300570
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Alg12-Cdg	Edema, Micrognathia, Polyhydramnios, Sepsis, Gastroesophageal reflux, Recurrent ear infections, R...	ORPHA:79324
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Micrognathia, Hydrocephalus, Shallow orbits, Dentinogenesis imperfec...	OMIM:112240
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Abnormality of the ovary	ORPHA:314478
Emanuel Syndrome	Hooded eyelid, Micrognathia, Recurrent candida infections, Gastroesophageal reflux, High palate, ...	ORPHA:96170
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Vomiting, Facial palsy	OMIM:256850
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Macroorchidism, Protruding ear, Ascending tubular aorta aneurys...	ORPHA:908
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Feeding difficulties in infancy, Vomiting, High palate, Agenesis of corpus callosum, Anten...	OMIM:608836
Pgm3-Cdg	Recurrent viral infections, Sepsis, Gastroesophageal reflux, High palate, Chronic otitis media, C...	ORPHA:443811
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Apnea, Micrognathia, Tachypnea, Abnormal optic disc morphology, Gastroes...	ORPHA:397715
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Prominent nose, Micrognathia, Nasogastric tube feeding in infancy, Feeding ...	ORPHA:177907
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infections, Periorbital edema, ...	OMIM:618048
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Wiskott-Aldrich Syndrome	Sinusitis, Sepsis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, ...	ORPHA:906
Hurler-Scheie Syndrome	Corneal opacity, Sensorineural hearing impairment, Cardiomyopathy, Rhinitis, Abnormal nerve condu...	ORPHA:93476
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer	ORPHA:145
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Intraventricular hemorrhage, Increased CSF lactate, Feeding difficulti...	OMIM:619055
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, R...	ORPHA:32960
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, High, narrow palate, Microcornea, Dilated third ventricle, Agenesis of cor...	ORPHA:464738
Poikiloderma With Neutropenia	Skin rash, Depressed nasal bridge, Edema, Underdeveloped nasal alae, Sparse eyebrow, Micrognathia...	OMIM:604173
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Diarr...	ORPHA:449285
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Dilation of Virchow-Robin spaces, Feeding difficulties in infancy, Irritability, Lateral ventricl...	ORPHA:2148
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Spermatogenic Failure 17	Male infertility	OMIM:617214
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Epicanthus, Depressed nasal bridge, Sparse eyebrow, Synophrys, Sensorineural hearing impairment, ...	OMIM:620075
Congenital Disorder Of Glycosylation, Type Iig	Anteverted nares, Failure to thrive in infancy, Posteriorly rotated ears, Micrognathia, Feeding d...	OMIM:611209
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometro...	ORPHA:849
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Cerebral Cavernous Malformations	Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation	OMIM:116860
Plasminogen Deficiency, Type I	Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Co...	OMIM:217090
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Prominent nose, Cryptorchidism, Lateral ventricle dilatation, High palate,...	OMIM:619244
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Ciliary Dyskinesia, Primary, 50	Male infertility, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Chronic si...	OMIM:620356
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Mandibular osteomyelitis, Car...	OMIM:259710
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage, Dysphagia	ORPHA:324708
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Ectropion of lower eyelids, Episodic vomiting, Eyelid coloboma, Gastroesopha...	OMIM:615873
Craniosynostosis 6	Sensorineural hearing impairment, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of...	OMIM:616602
Leishmaniasis	Abnormal bleeding, Rhinitis, Anorexia, Weight loss	ORPHA:507
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage, Horner syndrome	OMIM:106070
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Polyhydramnios, Respiratory insufficiency	OMIM:215550
Amoebiasis Due To Free-Living Amoebae	Increased CSF protein concentration, Unusual skin infection, Sinusitis, Pneumonia, Abnormal cereb...	ORPHA:68
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec...	OMIM:615816
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Anteverted nares, Posteriorly rotated ears, Micrognathia, Keratitis, Synophrys, ...	OMIM:602562
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ...	OMIM:616022
Familial Afibrinogenemia	Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival ble...	ORPHA:98880
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide,...	OMIM:615294
Idiopathic Achalasia	Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspirat...	ORPHA:930
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Corneal opacity, Depressed nasal bridge, Apnea, Mala...	ORPHA:579
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Carboxypeptidase N Deficiency	Angioedema, Allergic rhinitis	OMIM:212070
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Sensorineural hearing impairment, Tubul...	ORPHA:488627
Emanuel Syndrome	Micrognathia, Gastroesophageal reflux, High palate, Dandy-Walker malformation, Cryptorchidism, Pa...	OMIM:609029
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Feeding difficulties	ORPHA:488635
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Failure to thrive, Cataract, Optic nerve hypoplasia, Highly arched eyebrow...	OMIM:620157
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Abnormal dental enamel morphology, Microg...	ORPHA:2050
Craniofaciofrontodigital Syndrome	Respiratory distress, Abnormal cerebral vascular morphology, Large for gestational age, Edema, Po...	ORPHA:363705
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Skin rash, Feeding difficulties	ORPHA:26
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Familial Hypofibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:98881
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c...	ORPHA:206436
Cronkhite-Canada Syndrome	Intestinal polyposis, Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Lymp...	ORPHA:2930
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Conjunctivitis, Vomiting, Cough, Me...	ORPHA:454836
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Lateral ventricle dilatation, Hydrocele testis, Recurrent infections	ORPHA:85290
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Wheezing, Recu...	OMIM:613807
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Lymphatic Malformation 6	Epicanthus, Generalized edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Edema, Micro...	OMIM:616843
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Abnormal...	ORPHA:251992
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Wheezing, Recur...	OMIM:613808
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Periventricular heterotopia, Cryptorchidism, Interhypothalamic adhesion, ...	OMIM:618929
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis	OMIM:253240
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Pulmonary Blastoma	Weight loss, Dyspnea, Recurrent pneumonia, Cough	ORPHA:64741
Desmoid Tumor	Fibroma, Neoplasm of the skin, Desmoid tumors	ORPHA:873
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Palpebral edema, Anteverted nares, Depressed nasal...	ORPHA:363659
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dandy-Walker malformation, Posteriorly rotated ears, Episodic tachypnea, Mic...	ORPHA:163961
Shigellosis	Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Dehydration,...	ORPHA:810
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Lig4 Syndrome	Recurrent respiratory infections, Epicanthus, Psoriasiform dermatitis, Small for gestational age,...	OMIM:606593
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility	OMIM:262800
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy...	ORPHA:90068
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ...	ORPHA:83469
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Slc35A2-Cdg	Failure to thrive in infancy, Sensorineural hearing impairment, Feeding difficulties, Lateral ven...	ORPHA:356961
Typhoid	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons...	ORPHA:99745
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:616651
Cyclic Neutropenia	Pharyngitis, Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis,...	ORPHA:2686
Cystic Fibrosis	Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Gastroesophageal refl...	ORPHA:586
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi...	OMIM:606763
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Feeding difficu...	OMIM:618577
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Cog5-Cdg	Posteriorly rotated ears, Prominent nose, Cryptorchidism, Sensorineural hearing impairment, Wide ...	ORPHA:263487
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Broad nasal tip, Micrognathia, Cryptorchidism, Hydrocephalus, Patent d...	OMIM:609757
Familial Cold Autoinflammatory Syndrome 3	Recurrent sinopulmonary infections, Allergic rhinitis, Asthma, Onychomycosis, Angioedema, Presync...	OMIM:614468
Brain Small Vessel Disease 2	Intracranial hemorrhage, Ventriculomegaly	OMIM:614483
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Acrodermatitis Enteropathica	Glossitis, Abnormal eyebrow morphology, Anorexia, Abnormal eyelid morphology, Pustule, Malabsorpt...	ORPHA:37
Trichothiodystrophy	Congenital exfoliative erythroderma, High, narrow palate, Partial agenesis of the corpus callosum...	ORPHA:33364
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ...	ORPHA:31825
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Hypothalamic hamartoma	ORPHA:649929
Multiple Sulfatase Deficiency	Corneal opacity, Anteverted nares, Periorbital edema, Hydrocephalus, Increased CSF protein concen...	OMIM:272200
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Failure to thrive, Gastrointestinal hemorrhage, Malabsorption	ORPHA:79301
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Epicanthus, Underdeveloped nasal alae, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Wid...	ORPHA:1516
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Central Neurocytoma	Nausea and vomiting, Abnormal lateral ventricle morphology, Hydrocephalus, Depression, Tinnitus	ORPHA:73256
Sneddon Syndrome	Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke	OMIM:182410
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Pyloric stenosis, Chronic diarrhea, Submucous cleft hard palate, Lateral ventricle dilatation, As...	ORPHA:457279
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Cataract, Telangiectasia of...	ORPHA:679
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma	ORPHA:1501
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the nose, Nas...	ORPHA:2869
Muckle-Wells Syndrome	Episcleritis, Skin rash, Abnormality of the nose, Abdominal pain, Vasculitis, Optic atrophy, Uvei...	ORPHA:575
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho...	ORPHA:169160
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral in...	OMIM:613179
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Feeding difficulties in infancy, Nasogast...	ORPHA:565624
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini...	OMIM:242670
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Periorbital edema, Recurrent infections, Arthritis, Panniculitis,...	OMIM:617591
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Cupped ear, Lateral ventricle dilatation, Pul...	OMIM:618914
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, ...	OMIM:175500
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Entropion, ...	ORPHA:36426
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Skin rash, Allergic rhinitis, Carious teeth, Asthma, Malnutrition, Steatorrhea, Failure to thrive...	OMIM:612714
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Kabuki Syndrome 1	Micrognathia, Feeding difficulties in infancy, Protruding ear, High palate, Recurrent aspiration ...	OMIM:147920
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage, Recurrent infections	OMIM:300049
Granulomatosis With Polyangiitis	Episcleritis, Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized p...	OMIM:608710
Spinocerebellar Ataxia 48	Irritability, Cachexia, Dysphagia, Depression	OMIM:618093
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Crouzon Syndrome	Mandibular prognathia, Keratitis, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Conjun...	OMIM:123500
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:610951
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Colitis...	ORPHA:37042
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Temple Syndrome	Decreased testicular size, Wide nose, Anteverted nares, Depressed nasal bridge, Small for gestati...	OMIM:616222
Mosaic Trisomy 1	Microretrognathia, Depressed nasal bridge, Abnormal pinna morphology, Polyhydramnios, Increased n...	ORPHA:1692
Roifman Syndrome	Lymphadenopathy, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Lymphedema, Overweight, Obesity, Lateral ventricle dilatation, Dysphagia...	ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv...	OMIM:615287
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu...	ORPHA:90308
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Wide nasal bridge...	OMIM:618302
Tetrasomy 12P	Delayed eruption of teeth, Telecanthus, Anteverted nares, Cachexia, Sparse eyebrow, Abnormal soft...	ORPHA:884
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal eyelid morphology, Micrognathia, Feeding difficulties in infancy, Anorec...	ORPHA:567
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:50944
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nausea, ...	ORPHA:85450
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Congestive heart failure, Respiratory insufficiency, Feeding difficulties, Arrhythmia	ORPHA:157973
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Prolonged bleeding time, Recurrent respiratory infections, Lymphedema, Senso...	ORPHA:3226
Beemer Lethal Malformation Syndrome	Hydrocephalus, Wide nasal bridge	OMIM:209970
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Su...	OMIM:181270
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A...	ORPHA:449563
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Meningitis, Hydrocephalus, Optic atrophy, Unusual CNS ...	ORPHA:447788
Rheumatic Fever	Nausea and vomiting, Pericarditis, Sinusitis, Epistaxis, Anorexia, Abdominal pain, Myocarditis, R...	ORPHA:3099
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Prelingual sensorineural hearing impairment, Sepsis, Re...	ORPHA:477
Ventriculomegaly With Defects Of The Radius And Kidney	Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Listeriosis	Respiratory distress, Sepsis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, N...	ORPHA:533
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Cough	ORPHA:163703
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Ige Responsiveness, Atopic	Asthma, Eczema, Allergic rhinitis	OMIM:147050
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Conjunctivitis, Edema	OMIM:603552
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Nausea and vomiting, Transient ischemic attack, CSF pleocytosis, Intracrania...	ORPHA:140989
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Weiss-Kruszka Syndrome	Epicanthus, Anteverted nares, Horizontal crus of helix, Highly arched eyebrow, Hearing impairment...	OMIM:618619
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti...	OMIM:209920
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Eczema, Feeding difficulties in infancy, Invasive fungal infection, Recurrent myco...	ORPHA:98813
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Pharyngitis, Maculopapular ex...	ORPHA:319218
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Bilateral ptosis, Dyspnea, Diarrhea, Dehydration, Retrogra...	ORPHA:230
Leukoencephalopathy With Calcifications And Cysts	Emotional lability, Stroke, Cerebral hemorrhage	ORPHA:542310
Dworschak-Punetha Neurodevelopmental Syndrome	Dilation of Virchow-Robin spaces, Depressed nasal bridge, Dysplastic corpus callosum, Cupped ear,...	OMIM:619955
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Hydrops fetalis, Int...	ORPHA:85212
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, ...	ORPHA:1438
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Hydrocephalus, Patent ductus arteriosus, Asthma, Feeding difficulties,...	OMIM:618162
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Edem...	ORPHA:77297
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Cleft palate	ORPHA:398189
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity, Anteverted nares, Hydrocephalus, Low-set ears	ORPHA:1532
Melkersson-Rosenthal Syndrome	Facial edema, Facial palsy, Furrowed tongue	OMIM:155900
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Entropion, A...	ORPHA:537
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Polyhydramnios, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ...	OMIM:617296
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se...	ORPHA:95455
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Asthma, Bronchiectasis, Respiratory insufficie...	OMIM:616037
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Failure to thrive, Cataract, Portal hypertension, Hyd...	ORPHA:974
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom...	OMIM:150800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Sepsis, Periorbital fullness, Conjunctivitis, Tricuspid regurgitation, Pate...	ORPHA:505248
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Vomiting, Protein-losing enter...	ORPHA:79319
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Recurren...	OMIM:601495
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Depressed nasal bridge, Vascular dilatation, Hydroce...	OMIM:220220
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus	OMIM:619302
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Cataract, Recurrent infections, Hypoglycorrhachia, Macrotia, Zonular...	ORPHA:168577
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Ectopia lentis, Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, ...	OMIM:604571
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Genetic Steroid-Resistant Nephrotic Syndrome	Edema, Abdominal pain, Minimal change glomerulonephritis, Periorbital edema, Peritonitis, Irritab...	ORPHA:656
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Delayed eruption of primary teeth, Dilated cardiomyopathy, Lacrimal...	OMIM:300952
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Ventr...	OMIM:304100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Skin rash, Pneumonia, Abnormal retinal vascular morphology, Raynaud ...	ORPHA:247691
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Malabsorption, Anorexi...	ORPHA:98850
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Recurrent respiratory infections, Sparse eyelashes, Depressed nasal bridge, Absen...	OMIM:614941
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Cachexia, Hearing impairment, Optic atrophy, Corneal scarring, H...	OMIM:610965
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Polyhydramnios, Underdeveloped nasal alae, Micrognathia, Recurrent pneumonia...	OMIM:614098
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Squamous cell carcinoma	OMIM:615225
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Wide nasal bridge, Cardiomyopathy, Lateral ventricle dilatation, High p...	ORPHA:572798
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Infantile Sialic Acid Storage Disease	Epicanthus, Anteverted nares, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Ascites, ...	OMIM:269920
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abscess, Abnormality o...	ORPHA:400
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Angina pectoris, Cachexia, Micrognathia, Abnor...	ORPHA:109
Aicardi Syndrome	Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang...	OMIM:304050
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Meningiti...	ORPHA:117
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Cachexia, Micrognath...	ORPHA:371364
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Skin rash, Gastriti...	ORPHA:809
Agammaglobulinemia, X-Linked	Sepsis, Conjunctivitis, Meningitis, Infectious encephalitis, Enteroviral hepatitis, Epididymitis,...	OMIM:300755
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed...	ORPHA:2483
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Failure to thrive, Cataract, Small for gestational a...	OMIM:619869
Angioedema, Hereditary, 4	Facial edema, Laryngeal edema, Angioedema	OMIM:619360
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage, Pedal edema	ORPHA:84090
Autoimmune Hypoparathyroidism	Prolonged QT interval, Abdominal symptom, Cataract, Dyspnea, Chronic mucocutaneous candidiasis, D...	ORPHA:36913
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy, Sensorineural hearing impairment	OMIM:616084
Oculopharyngodistal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Oral-phary...	ORPHA:98897
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Mulibrey Nanism	Wide nasal bridge, Cachexia	ORPHA:2576
Juvenile Polyposis Of Infancy	Abnormal bleeding, Gastrointestinal hemorrhage, Depressed nasal bridge, Cachexia, Abdominal pain,...	ORPHA:79076
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Sinusitis, Anal stenosis, Choanal atresia, Recurrent uri...	OMIM:251260
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Tarp Syndrome	Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted nares, Wide nasal bridge, Mic...	OMIM:311900
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Diaminopentanuria	Neurodegeneration	OMIM:222350
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Pulsatile tinnitus, Cerebral hemorrhage, Nausea, Congestive heart failu...	ORPHA:276621
Neurofibromatosis, Type Iii, Mixed Central And Peripheral	Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men...	OMIM:162260
Familial Cold Urticaria	Nausea and vomiting, Abdominal pain, Sensorineural hearing impairment, Dehydration, Arthritis, Co...	ORPHA:47045
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Feeding difficulties, Colpocephaly, Increase...	OMIM:616034
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi...	ORPHA:99147
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Asthma, Diarrhea, ...	OMIM:617321
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Precocious atherosclerosis, Stroke, Arrhythmia, Spina bifida occulta...	ORPHA:230839
Cutis Laxa, Autosomal Recessive, Type Ic	Micrognathia, Vascular dilatation, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Perior...	OMIM:613177
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Patent ductus arteriosus, Nasogast...	OMIM:106260
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Sarcoma	ORPHA:69077
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi...	OMIM:614868
Muckle-Wells Syndrome	Maculopapular exanthema, Conjunctivitis, Recurrent aphthous stomatitis, Progressive sensorineural...	OMIM:191900
Moynahan Syndrome	Sensorineural hearing impairment, Hypogonadism, Cachexia	ORPHA:2574
Williams Syndrome	Myocardial infarction, Abnormal cerebral vascular morphology, Micrognathia, Periorbital edema, Re...	ORPHA:904
Dystonia 30	Hypothalamic hamartoma	OMIM:619291
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropion, Predominantly...	ORPHA:33001
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, High, narrow palate, Synophrys, Hydrocephalus, Ileus, Narrow palpebral fissure, Col...	OMIM:620156
Whim Syndrome	Pharyngitis, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lym...	ORPHA:51636
Neurocutaneous Melanocytosis	Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Infectious encephalitis, Ventric...	ORPHA:2481
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Anteverted nares, Partial agenesis of the corpus callosum, Macrotia...	OMIM:234050
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis	ORPHA:134
Chromosome 6Pter-P24 Deletion Syndrome	High palate, Agenesis of corpus callosum, Dandy-Walker malformation, Depressed nasal bridge, Pate...	OMIM:612582
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Hydrocephalus, Patent duc...	ORPHA:171839
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Arteria lusoria, Protruding ear, Gastroesophageal reflux, Recurrent a...	ORPHA:221139
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa...	ORPHA:2137
Idiopathic Steroid-Resistant Nephrotic Syndrome	Edema, Pulmonary embolism, Abdominal pain, Minimal change glomerulonephritis, Peritonitis, Perior...	ORPHA:567548
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Chronic Granulomatous Disease	Recurrent respiratory infections, Sinusitis, Eczema, Malabsorption, Pyloric stenosis, Meningitis,...	ORPHA:379
Cowden Syndrome 1	Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Hydroce...	OMIM:158350
Nocardiosis	Respiratory distress, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Vomit...	ORPHA:31204
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Keratoconjun...	ORPHA:91138
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge...	OMIM:610644
Interstitial Lung And Liver Disease	Hepatomegaly, Hyperammonemia, Cholestasis, Hepatic fibrosis, Cirrhosis, Thrombocytosis, Hepatic s...	OMIM:615486
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia, Tracheoesophageal fistula, Respiratory insuffic...	ORPHA:93941
Hypophosphatasia, Infantile	Recurrent respiratory infections, Apnea, Anorexia, Polyhydramnios, Intracranial hemorrhage, Irrit...	OMIM:241500
Angioedema, Hereditary, 5	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619361
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Cholecystitis,...	ORPHA:99827
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Tuberous Sclerosis 2	Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep...	OMIM:613254
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Failure to thrive, Cataract, Cachexia, Underdeveloped nasal ala...	ORPHA:217346
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Almond-shaped palpebral fissure, Optic atrophy, Feeding difficulties, Irritabi...	OMIM:620352
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Ventriculomegaly...	ORPHA:1933
Intestinal Dysmotility Syndrome	Projectile vomiting, Cataract, Polyhydramnios, Abdominal distention, Diarrhea, Weight loss, Decre...	OMIM:620045
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Optic atrophy, Developmental cataract, Lateral ventricle dilatat...	OMIM:613154
Rabin-Pappas Syndrome	Mandibular prognathia, Retinal telangiectasia, Micrognathia, Periorbital fullness, Conductive hea...	OMIM:620155
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Ectopia lentis, Feedin...	OMIM:616914
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Cryptorchidism, Abnormal location of e...	OMIM:218350
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Hype...	ORPHA:20
Fried Syndrome	Hydrocephalus, Macrotia, High palate, Hearing impairment	ORPHA:85335
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Wolman Disease	Nausea and vomiting, Cachexia, Bone-marrow foam cells, Abdominal distention, Malnutrition, Esopha...	ORPHA:75233
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm	OMIM:614350
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Malabsorption, Diarrhea, Sepsis, Dehydration, Weight...	ORPHA:33355
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Carious teeth, Cryptorchidism, H...	ORPHA:2701
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Anteverted ears, Bilateral cryptorchidism, Conjuncti...	OMIM:616268
Propionic Acidemia	Apnea, Eczema, Poor appetite, Feeding difficulties in infancy, Cerebellar hemorrhage, Tachypnea, ...	OMIM:606054
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Congenital Tufting Enteropathy	Villous atrophy, Elevated fecal osmolality, Secretory diarrhea, Dehydration, Vomiting, Optic disc...	ORPHA:92050
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r...	ORPHA:93672
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Azoospermia, Focal T2 ...	OMIM:613724
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O...	ORPHA:1528
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Chromosome 1P36 Deletion Syndrome, Distal	Feeding difficulties in infancy, Synophrys, Depressed nasal ridge, Gastroesophageal reflux, High ...	OMIM:607872
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra...	OMIM:613501
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Failure to thrive, Narrow nasal ridge, Hydrocephalus, Bulbous nose, ...	OMIM:612940
Trisomy 18	Microcornea, Pointed helix, Holoprosencephaly, Iris coloboma, Microretrognathia, Low-set, posteri...	ORPHA:3380
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Bowel incontinence, Opt...	ORPHA:702
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ...	OMIM:603041
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Epicanthus, Depressed nasal bridge, Micrognathia, Sparse eyebrow, Hydrocephalus, Cleft palate, Tu...	ORPHA:459061
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, De...	ORPHA:1452
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Al Amyloidosis	Nonproductive cough, Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormal auton...	ORPHA:85443
Scheie Syndrome	Aortic regurgitation, Corneal opacity, Sensorineural hearing impairment, Rhinitis, Abnormal nerve...	ORPHA:93474
Weaver Syndrome	Mandibular prognathia, Epicanthus, Depressed nasal bridge, Cryptorchidism, Patent ductus arterios...	OMIM:277590
Greig Cephalopolysyndactyly Syndrome	Telecanthus, Wide nasal bridge, Agenesis of corpus callosum, Hydrocephalus	ORPHA:380
Acquired Purpura Fulminans	Shock, Skin rash, Sepsis, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, H...	ORPHA:49566
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Sparse eyelashes, Eczema, Depressed nasal bridge, Underdeve...	OMIM:305100
Cystic Fibrosis	Male infertility, Nasal polyposis, Meconium ileus, Reduced forced expiratory volume in one second...	OMIM:219700
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Wheezing, Diarrhea, Malnutrition, Vomiting, Hypotens...	ORPHA:79456
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Epicanthus, Failure to thrive, Hydrocephalus, Patent ductus arteriosus, Optic ...	OMIM:614576
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Vasculitis, Dia...	ORPHA:343
Congenital Factor Xi Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Duplication Of The Pituitary Gland	Encephalocele, Abnormal pituitary gland morphology, Agenesis of corpus callosum, Abnormal hypotha...	ORPHA:314621
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Respiratory distress, Cerebral hemorrhage, Gastrostomy tube feeding in inf...	OMIM:620278
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion	ORPHA:411777
Intellectual Developmental Disorder, Autosomal Dominant 65	Anteverted nares, Posteriorly rotated ears, Facial hypotonia, Micrognathia, Synophrys, Bulbous no...	OMIM:619320
Neurofibromatosis, Familial Spinal	Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, S...	OMIM:162210
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Hemophilia B	Abnormal bleeding, Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage, Persistent blee...	OMIM:306900
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydr...	OMIM:109120
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Arachnoid Cyst	Encephalocele, Ptosis, Enlarged fossa interpeduncularis, Facial palsy, Subarachnoid hemorrhage, P...	ORPHA:2356
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Xerostomia, Keratoconjunctivitis ...	ORPHA:238468
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Hydrocephalus, Upslanted palpebral fissure, High palate...	OMIM:300558
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age	OMIM:619278
Trisomy 1Q	Microretrognathia, Wide nose, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, Hydrocephal...	ORPHA:261344
Angioedema, Hereditary, 7	Facial edema, Angioedema	OMIM:619366
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Pulsatile tinnitus, Cerebral hemorrhage, Nausea, Congestive heart failu...	ORPHA:29072
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Carious teeth, Folliculitis, Conjunctiviti...	OMIM:612843
Pallister-Hall-Like Syndrome	Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Hypothalamic hamartoma, Short nos...	OMIM:241800
Progeroid Short Stature With Pigmented Nevi	Cataract, Small for gestational age, Allergic rhinitis, Esophageal ulceration, Recurrent viral in...	OMIM:176690
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
3C Syndrome	Micrognathia, Feeding difficulties in infancy, High, narrow palate, Gastroesophageal reflux, Iris...	ORPHA:7
Ciliary Dyskinesia, Primary, 6	Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili...	OMIM:610852
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den...	ORPHA:1133
B4Galt1-Cdg	Abnormal bleeding, Inflammatory abnormality of the skin, Small for gestational age, Edema, Hydroc...	ORPHA:79332
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal ...	ORPHA:29207
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ...	OMIM:277450
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Biotinidase Deficiency	Respiratory distress, Skin rash, Apnea, Optic neuropathy, Recurrent viral infections, Hearing imp...	ORPHA:79241
Mucopolysaccharidosis Type 6	Failure to thrive, Sinusitis, Recurrent upper respiratory tract infections, Macroglossia, Opacifi...	ORPHA:583
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Recurrent respiratory infections, Short nose, Cachexia	ORPHA:1389
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti...	ORPHA:340
Kawasaki Disease	Edema, Conjunctivitis, Cholecystitis, Meningitis, Abdominal pain, Recurrent pharyngitis, Vasculit...	ORPHA:2331
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Protrud...	ORPHA:500150
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Mitral regurgitation	ORPHA:83473
Infant Botulism	Ptosis, Cardiac arrest, Bowel incontinence, Anorexia, Respiratory insufficiency due to muscle wea...	ORPHA:178478
Fg Syndrome Type 1	Prominent nose, Micrognathia, Gastroesophageal reflux, High palate, Abnormal social behavior, Mal...	ORPHA:93932
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Posteriorly rotated ears, Long nose, Synophrys, Partial agenesis o...	OMIM:620113
Fountain Syndrome	Facial edema, Sensorineural hearing impairment	OMIM:229120
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte...	OMIM:615688
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Feeding difficulties in infancy, Crypto...	ORPHA:90322
Lowry-Maclean Syndrome	Abnormality of the supraorbital ridges, Micrognathia, Hypoplasia of the maxilla, High, narrow pal...	ORPHA:2409
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Feeding difficulties in infancy, Anteriorly placed anus, Choanal stenosis, ...	OMIM:123790
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Specific Granule Deficiency 2	Abnormal pinna morphology, Posteriorly rotated ears, Simple ear, Recurrent pneumonia, Sepsis, Rec...	OMIM:617475
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Hogue-Janssen Syndrome 2	Anteverted nares, Facial hypotonia, Hydrocephalus, Chronic constipation, Downslanted palpebral fi...	OMIM:616362
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Sensorineural hearing impairment, Cachexia	ORPHA:1144
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Postinfectious Vasculitis	Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla...	ORPHA:48435
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction...	ORPHA:221
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Small for gestational age, Malabsorption, Asthma, Chronic diarr...	OMIM:601675
16Q24.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Cryptorchidism, Di...	ORPHA:261250
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Feeding difficulties in infancy, Agenesis of corpus callosum, Dandy-Walker malforma...	OMIM:257300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Conjunctivitis, Agenesis of corpus callosum, Absent eyebrow,...	ORPHA:2273
Desmosterolosis	Micrognathia, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ears, Depres...	ORPHA:35107
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re...	OMIM:613779
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Fibrosarcoma, Histiocytoma, Osteosarcoma	OMIM:112250
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Ventriculomegaly, Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydr...	ORPHA:1812
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th...	ORPHA:81
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Anteverted nares, Depressed nasal bridge, Polyhydramnios, Seborrheic dermatitis, Micrognathia, La...	OMIM:300868
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Respiratory insufficiency, Feeding di...	OMIM:613153
Acute Monoblastic/Monocytic Leukemia	Anorexia, Periorbital edema, Weight loss, Progressive hearing impairment, Exertional dyspnea	ORPHA:514
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Gastroparesis, Int...	ORPHA:1876
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Cataract, Depressed nasal bridge, Telangiectasia of the skin, Infra-orbita...	OMIM:616007
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble...	OMIM:308800
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Uveitis, Arthritis, Conjunctivitis, Hearing impairment	OMIM:120100
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Respiratory insufficien...	ORPHA:93262
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Protruding ear, Anteverted nares, Ptosis	OMIM:618731
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Vascu...	OMIM:277175
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr...	ORPHA:733
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ...	OMIM:608184
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Anorexia, Abdominal pa...	ORPHA:761
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Cataract, Delayed eruption of primary...	ORPHA:90321
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Holocarboxylase Synthetase Deficiency	Respiratory distress, Nausea and vomiting, Eczema, Anorexia, Tachypnea, Keratoconjunctivitis, Wei...	ORPHA:79242
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,...	OMIM:106100
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Respirator...	ORPHA:779
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Recurrent pneumonia, Optic atrophy, Lateral ventricle dilatation, Optic nerve comp...	OMIM:612301
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Apert Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Conductive hea...	ORPHA:87
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Congenital Toxoplasmosis	Failure to thrive in infancy, Diarrhea, Hydrocephalus, Ascites, Ventriculomegaly, Hearing impairment	ORPHA:858
Flynn-Aird Syndrome	Cataract, Cachexia, Carious teeth, Progressive sensorineural hearing impairment, Atherosclerosis	ORPHA:2047
Vitamin K Antagonist Embryofetopathy	Cataract, Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Hydrocepha...	ORPHA:1914
Monosomy 13Q34	Epicanthus, Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Prominent nose, Broad na...	ORPHA:96168
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia, Exertional dyspnea	ORPHA:42
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Wide nasal bridge, Downslanted palpebral fissures, Agenesis of cor...	OMIM:175700
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morpholog...	ORPHA:2180
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Failur...	OMIM:263400
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Synophrys, Hydrocephalus, Resp...	ORPHA:1895
Stromme Syndrome	Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Prominent nasal bridge, Microgna...	OMIM:243605
Partial Androgen Insensitivity Syndrome	Male infertility, Bifid scrotum, Fused labia majora, Ambiguous genitalia, Hypospadias, Clitoral h...	ORPHA:90797
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Polyhydramnios, Neonatal asphyxia, Asthma, Erythroderma	OMIM:608649
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Precocious atherosclerosis, Dehydration, Vomiting, Abdominal pain, Hypovo...	ORPHA:275761
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Pachygyria, Abnormal thalamus morphology, Agyria, Dysgyria	ORPHA:467166
Meningioma	Nausea and vomiting, Papilledema, Hypogonadotropic hypogonadism, Facial palsy, Cerebral hemorrhag...	ORPHA:2495
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Hy...	ORPHA:667
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension	OMIM:618886
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Epicanthus, Wide nasal bridge, Recurrent infections, Hypertension, Lateral...	OMIM:300896
Hemophilia B	Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Prolonged bleeding a...	ORPHA:98879
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Feeding difficulties, Low...	OMIM:610333
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ...	ORPHA:217390
Ciliary Dyskinesia, Primary, 10	Chronic otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis	OMIM:612518
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Severe viral infection, Bronc...	ORPHA:79128
Halperin-Birk Syndrome	Hearing impairment, Micrognathia, Optic atrophy, Developmental cataract, Colpocephaly, Pseudobulb...	OMIM:618651
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Osteogenesis Imperfecta	Abnormality of dental color, Convex nasal ridge, Micrognathia, Osteoarthritis, Neonatal respirato...	ORPHA:666
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Highly...	ORPHA:220497
Lynch Syndrome	Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Malabsorption, Abdominal ...	ORPHA:144
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Polyhydramnios, Cachexia, Micrognathia, Wide nasal bridge	ORPHA:2774
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto...	ORPHA:3260
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Retinal hamartoma,...	ORPHA:538
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Cataract, Esophageal stricture, Malnutrition, Corneal scarrin...	OMIM:226600
Bernard-Soulier Syndrome	Abnormal bleeding, Spontaneous, recurrent epistaxis, Gastrointestinal hemorrhage, Hematemesis, Pr...	ORPHA:274
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Good Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i...	ORPHA:169105
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculome...	OMIM:614120
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Hepa...	ORPHA:728
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Desmoid tumors, Adenocarcinoma of the colon	ORPHA:247798
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Depressed nasal bridge, Posteriorly rotated ears, Wide nasal bridg...	OMIM:619479
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Skin rash, Acne, Sudden cardiac death, Abnormal cerebral vascular mo...	ORPHA:758
1Q44 Microdeletion Syndrome	Epicanthus, Telecanthus, Intestinal malrotation, Micrognathia, Synophrys, Hydrocephalus, Upslante...	ORPHA:238769
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Cataract, Menometrorrhagia, Epistaxis, Abnormal d...	ORPHA:79430
Gonadoblastoma	Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g...	ORPHA:206484
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,...	ORPHA:158057
Hemidystonia-Hemiatrophy Syndrome	Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology	ORPHA:306741
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage, Dentinogenesis imperfecta	OMIM:616507
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ...	ORPHA:44890
Hydrolethalus	Low-set, posteriorly rotated ears, Polyhydramnios, Micrognathia, Cryptorchidism, Hydrocephalus, S...	ORPHA:2189
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Recurrent pneumonia	OMIM:619750
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He...	ORPHA:199299
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting	ORPHA:543
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Optic atrophy	OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Hydrocephalus, Developmental cataract, Abnormal left ventricular function, Cardiomy...	OMIM:613155
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Delayed eruption of teeth, Abdominal symptom, Cataract, Depressed nasal br...	ORPHA:79444
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea	OMIM:133100
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Recurrent ...	ORPHA:64743
Acys Amyloidosis	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi...	ORPHA:440437
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia, Hydrocephalus, Optic atrophy, Arteriosclerosis, Hearing impairment	ORPHA:220295
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cerebellar hemorrhage, Dehydration, Tubulointerstitial nephritis, Cardiomyo...	OMIM:251000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Epicanthus, Depressed nasal bridge, Hydrocephalus, Large earlobe, Downslanted palpebral fissures,...	OMIM:602501
Agel Amyloidosis	Tongue atrophy, Cataract, Facial palsy, Edema, Bilateral ptosis, Xerostomia, Bruising susceptibil...	ORPHA:85448
Lymphedema-Distichiasis Syndrome	Ectropion, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Micrognathia, Lymphede...	OMIM:153400
Alexander Disease	Nausea and vomiting, Facial palsy, Sudden cardiac death, Bowel incontinence, Aqueductal stenosis,...	ORPHA:58
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Panuveitis, Panniculitis, Optic neuritis	OMIM:301081
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma	ORPHA:330064
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Micrognathia, Hydrocephalus, Double outlet right ventricle, Cleft palate,...	OMIM:220210
Witteveen-Kolk Syndrome	Uplifted earlobe, Polyhydramnios, Feeding difficulties in infancy, High, narrow palate, Protrudin...	OMIM:613406
Desmosterolosis	Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, P...	OMIM:602398
Thanatophoric Dysplasia	Depressed nasal bridge, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased nuchal...	ORPHA:2655
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Depressed na...	ORPHA:647
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cataract, Chronic active hepatitis, Premature ovarian insufficiency, Female h...	OMIM:240300
Bresek Syndrome	Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Cry...	ORPHA:85284
Coach Syndrome 2	Hypertension, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum	OMIM:619111
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Cachexia, Ileus, Constipation, Malar flattening, Ptosis	ORPHA:52503
Hellp Syndrome	Pulmonary edema, Cerebral hemorrhage, Nausea, Abdominal pain, Increased body weight, Prolonged pr...	ORPHA:244242
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Posteriorly rotated ears, Choanal atresia, Underdeveloped nasal alae, Bilateral ptosis, Hydroceph...	ORPHA:163979
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Edema, Seborrheic dermatitis, Mal...	ORPHA:2796
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis...	OMIM:300991
Schwartz-Jampel Syndrome	Apnea, Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Microcornea, High palate, L...	ORPHA:800
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Type II lissencephaly,...	ORPHA:370959
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Epicanthus, Low-set, posteriorly rotated ears, Micrognathia...	ORPHA:1908
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Hydrocephalus...	OMIM:614886
Takayasu Arteritis	Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Anorexia, Vasculitis...	ORPHA:3287
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Reduced progressive sperm motility, Decreased nasal nitric oxide, Chronic...	OMIM:619608
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Polyhydramnios, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Pte...	OMIM:225790
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Micrognathia, Weight loss, Convex nasal ridge, Atherosclerosis	ORPHA:1979
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu...	OMIM:264800
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
De Sanctis-Cacchione Syndrome	Entropion, Keratitis, Bilateral cryptorchidism, Sensorineural hearing impairment, Optic atrophy, ...	OMIM:278800
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia	OMIM:212750
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Cough, Severe recurr...	ORPHA:276
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, I...	ORPHA:93274
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Kleeblattschaedel	Hydrocephalus, Recurrent corneal erosions	OMIM:148800
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Abnormality of the gastrointestinal tract, Sinusitis, Skin rash, Pneum...	ORPHA:811
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Prominent nose, Micrognathia, Partial agenesis of the corpus callosum, Gastroesophageal reflux, A...	OMIM:210710
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Sensorineural hearing impairment, Chronic diarrhea, Stea...	ORPHA:3217
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia	OMIM:617341
Juvenile Nasopharyngeal Angiofibroma	Nasal congestion, Facial edema, Juvenile colonic polyposis, Epistaxis	ORPHA:289596
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft pala...	OMIM:263520
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Spondyloenchondrodysplasia	Delayed eruption of teeth, Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Raynaud p...	ORPHA:1855
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Epicanthus, Anteverted nares, Posteriorly...	ORPHA:3309
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Cerebral hemorrhage, Micrognathia, Hearing impairment, Conductive hearing impairment,...	ORPHA:536545
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Krabbe Disease	Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Vomiting, Failure to thrive, I...	OMIM:245200
Werner Syndrome	Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous...	ORPHA:902
Erythermalgia, Primary	Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations, Abnormal autonomic ...	OMIM:133020
Ciliary Dyskinesia, Primary, 41	Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ...	OMIM:618449
6P22 Microdeletion Syndrome	Epicanthus, Patent ductus arteriosus, Hydrocephalus, Low-set ears, Overfolded helix, Hearing impa...	ORPHA:251046
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Anorexia, Weight loss	ORPHA:52416
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Lymphedema...	ORPHA:1414
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Telecanthus, Epicanthus, Ventriculomegaly, Posteriorly rotated ears, Patent ductus arteriosus, Re...	OMIM:617260
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, Hydrocephalus, Sensorin...	ORPHA:2072
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infanc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infanc...	ORPHA:353277
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Highly...	ORPHA:220493
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility	OMIM:619518
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal...	OMIM:192315
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in ...	OMIM:606367
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis, Rec...	OMIM:614379
Choanal Atresia	Subglottic stenosis, Respiratory distress, Recurrent respiratory infections, Upper airway obstruc...	ORPHA:137914
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Aplasia/Hypoplasia involving the nose, Polyhydramnios, Micrognat...	ORPHA:3301
Peho Syndrome	Recurrent respiratory infections, Epicanthus, Anteverted nares, Palpebral edema, External ear mal...	ORPHA:2836
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Aganglionic megacolon, Posteriorly rotated ears, Highly arched eyebrow, Br...	OMIM:239300
Vici Syndrome	Micrognathia, Recurrent viral infections, High palate, Agenesis of corpus callosum, Median cleft ...	OMIM:242840
Blue Rubber Bleb Nevus	Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Arterioven...	ORPHA:1059
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Igg4-Related Pachymeningitis	Increased CSF protein concentration, Sinusitis, Abnormal cerebrospinal fluid morphology, Lymphade...	ORPHA:449427
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Cryptorchidism, Trache...	ORPHA:77298
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79405
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Delayed eruption of teeth, Abdominal symptom, Cataract, Depressed nasal br...	ORPHA:79443
Osteopathia Striata With Cranial Sclerosis	Apnea, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteos...	OMIM:300373
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Extrapulmonary tuberculosis, Severe infection, Vasculitis, Arteriosclero...	ORPHA:494424
Medulloblastoma	Nausea and vomiting, Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis, Irritab...	ORPHA:616
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Palpebral edema, Depressed nasal bridge, Bulbous nose, Feeding...	ORPHA:261144
Immunodeficiency 12	Skin rash, Recurrent viral infections, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent...	OMIM:615468
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Hypotrichosis Simplex Of The Scalp	Abnormal eyelash morphology, Abnormal eyebrow morphology, Atopic dermatitis, Allergic rhinitis	ORPHA:90368
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Feeding difficulties, Cervical myelopathy, Dysphag...	OMIM:207950
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Feeding difficulties in infan...	OMIM:253260
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Cachexia, Prominent nose, Synophrys, Obesity, Abnormal earlobe morphology, High palat...	ORPHA:85293
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Thrombocytosis, Hepatic ste...	OMIM:212065
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma	OMIM:224750
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Facial palsy, ...	OMIM:310400
Pfapa Syndrome	Nausea and vomiting, Malabsorption, Abdominal pain, Recurrent pharyngitis, Weight loss, Arthritis...	ORPHA:42642
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Anteverted nares, Hydrocephalus, Fusion of the left...	ORPHA:59315
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Brain abscess, Depressed nasal bridge, Bowel incontinence, C...	OMIM:616482
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Malabsorption, Fe...	ORPHA:3463
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Recurrent bacterial infections...	ORPHA:182
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux,...	OMIM:115150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Ventriculomegaly, Hydrocephalus, Bulbous nose, Optic atrophy, Craniofacial osteoscler...	OMIM:618476
Poems Syndrome	Thrombocytosis, Polycythemia, Lymphadenopathy	ORPHA:2905
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Osteoarthritis, Depress...	ORPHA:828
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, Choanal stenosi...	OMIM:602535
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Houge-Janssens Syndrome 1	Facial hypotonia, Pyloric stenosis, Hydrocephalus, Chronic diarrhea, Downslanted palpebral fissur...	OMIM:616355
Mucoepithelial Dysplasia, Hereditary	Cataract, Pneumonia, Hearing impairment, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutan...	OMIM:158310
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Epiblepharon, Feeding difficulties, Irritability, Lateral ventricle dilatation, Dysphagia, Thick ...	OMIM:618367
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Micrognathia, Cryptorc...	ORPHA:813
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Failure to thrive, Anteverted nares, Protruding tongue, Cryptorchidism, Patent ductus arteriosus,...	OMIM:612938
Familial Hyperaldosteronism Type I	Epistaxis, Nausea, Intracranial hemorrhage, Hypertension, Tinnitus	ORPHA:403
Trisomy 17P	Wide nose, Cataract, Hearing impairment, Prominent nose, Micrognathia, Hydrocephalus, Patent duct...	ORPHA:261290
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, High, narrow palate, Hydrocephalus, Obesity, Azoospermia	ORPHA:2183
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, S...	ORPHA:79282
Temple Syndrome	Small for gestational age, Feeding difficulties in infancy, Cryptorchidism, Hydrocephalus, Obesit...	ORPHA:254516
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171420
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis	OMIM:608106
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Anorexia, Po...	ORPHA:97280
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Tachypnea, Ventricular tachycardia, Atrioventricular block, Vomit...	ORPHA:137675
Rett Syndrome	Apnea, Intermittent hyperventilation, Cachexia, Gastroesophageal reflux, Constipation, Abnormal T...	OMIM:312750
Albers-Schönberg Osteopetrosis	Osteomyelitis, Facial palsy, Mandibular osteomyelitis, Carious teeth, Osteoarthritis, Hydrocephal...	ORPHA:53
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Aqueductal stenosis, Protruding ear, Gastroesophageal reflux, Neonatal dea...	OMIM:619534
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm	ORPHA:261102
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Immunodeficiency 15A	Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurre...	OMIM:618204
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Infra-orbital crease, Prominent nasal bridge, Increased nuchal translucency, Fetal intraventricul...	OMIM:618480
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Micrognathia, Aqueductal stenosis, Synophrys, Partial agenesis of the corp...	OMIM:619512
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Clouston Syndrome	Cataract, Sparse eyelashes, Sparse eyebrow, Conjunctivitis, Blepharitis	OMIM:129500
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Transketolase Deficiency	Cataract, Abnormal coronary artery course, Seborrheic dermatitis, Patent ductus arteriosus, Uveit...	ORPHA:488618
African Trypanosomiasis	Conjunctivitis, Vomiting, Iritis, Nausea, Papilledema, Abnormal EKG, Myelitis, Abnormality of the...	ORPHA:3385
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Wide nasal base, Wide nasal bridge, Obesity	OMIM:616521
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Micrognathia, Osteoarthritis, Intracranial hemorrhage, High palate, Shallo...	ORPHA:740
Biemond Syndrome Ii	Hydrocephalus, Iris coloboma	OMIM:210350
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari...	OMIM:300853
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Cryptorchidism, Hydrocephalus, Bulbous nose, Patent ductus arteriosus, Wide...	ORPHA:250989
Lissencephaly 5	Occipital encephalocele, Cataract, Hydrocephalus, Optic atrophy, Hearing impairment	OMIM:615191
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis, Purpura	OMIM:613496
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Hydrops fetalis, Coarctation of aorta, Ey...	ORPHA:268249
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2570
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Prolonged G2 phase of cell cycl...	OMIM:227650
Semilobar Holoprosencephaly	Depressed nasal ridge, Single naris, Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Hig...	ORPHA:220386
Alobar Holoprosencephaly	Depressed nasal ridge, Single naris, Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Hig...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Single naris, Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Hig...	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Single naris, Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Hig...	ORPHA:93924
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Pontocerebellar Hypoplasia, Type 7	Epicanthus, Apnea, Broad nasal tip, Micrognathia, Cryptorchidism, Synophrys, Hydrocephalus, Optic...	OMIM:614969
Familial Hyperaldosteronism Type Ii	Epistaxis, Nausea, Intracranial hemorrhage, Hypertension, Tinnitus	ORPHA:404
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, High, narrow palate, Abnormal left ventricular function, Abdo...	ORPHA:91387
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Choreoacanthocytosis	Temporomandibular joint crepitus, Protruding tongue, Dilated cardiomyopathy, Socially inappropria...	ORPHA:2388
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Obesity	ORPHA:141333
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Gorlin Syndrome	Mandibular prognathia, Epicanthus, Cataract, Telecanthus, Hypogonadotropic hypogonadism, Carious ...	ORPHA:377
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Sensorineural hearing impairment, Conjunctivitis, Erythroderma, Failure to thrive	OMIM:242150
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Female hypogonadism, Chronic diarrhea, Bronchiectasis, Ab...	OMIM:208900
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cryptorchidism, ...	ORPHA:1555
Superficial Siderosis	Abnormal bleeding, Enlarged sylvian cistern, Partial anosmia, Abnormal cerebrospinal fluid morpho...	ORPHA:247245
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Microtia, Constipation...	ORPHA:1834
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Intestinal pseudo-obstruction, Hearing impairment, Conges...	OMIM:309900
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Mixed hearing impairment, Lacrimal duct stenosis, Carious teeth, Periorbital d...	OMIM:615560
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Papillary Tumor Of The Pineal Region	Nausea and vomiting, Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology	ORPHA:251915
Holoprosencephaly 7	Alobar holoprosencephaly, Synophrys, Partial agenesis of the corpus callosum, Hypoplastic nasal s...	OMIM:610828
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Specific Granule Deficiency 1	Neutrophil nuclear clefts, Recurrent bacterial infections	OMIM:245480
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Prominent nose, Erythema nodosum, Congestive heart failure, Macrotia, Epididymitis,...	OMIM:256040
Late-Onset Junctional Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79406
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Ventriculomegaly	ORPHA:272
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Delayed eruption of teeth, Abdominal symptom, Cataract, Depressed nasal br...	ORPHA:94089
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal cardiovascular system physiology, Abnormal respiratory sy...	ORPHA:50251
Marfan Syndrome	Micrognathia, High, narrow palate, Hypoplasia of the iris, Emphysema, Slender build, Dilatation o...	ORPHA:558
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Respiratory insufficiency, Weight lo...	ORPHA:26790
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Oculoskeletodental Syndrome	Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Abnormal...	ORPHA:557003
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, As...	OMIM:619377
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis	OMIM:619607
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman...	ORPHA:201
Apert Syndrome	Mandibular prognathia, Choanal stenosis, Shallow orbits, Chronic otitis media, Agenesis of corpus...	OMIM:101200
Laryngeal Neuroendocrine Tumor	Anorexia, Oral-pharyngeal dysphagia, Neoplasm of the larynx, Weight loss, Exertional dyspnea	ORPHA:100083
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Sensorineural hearing impairment, Telangiectasia, Keratoconjuncti...	OMIM:278730
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Tuberculosis	Weight loss, Cough	ORPHA:3389
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Irritability, Hydrocephalus, Ventriculomegaly	ORPHA:2770
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts	OMIM:617425
Classic Homocystinuria	Gastrointestinal hemorrhage, Cataract, Anorexia, Pulmonary embolism, Ectopia lentis, Optic atroph...	ORPHA:394
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,...	ORPHA:314473
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Micrognathia, Venous insufficien...	ORPHA:565
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Tinnitus, Nausea	ORPHA:251274
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi...	OMIM:619632
Alexander Disease	Microcoria, Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Wheez...	OMIM:615707
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Epicanthus, Telecanthus, Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydrocephal...	OMIM:618590
Cardiofaciocutaneous Syndrome	Lymphedema, Feeding difficulties in infancy, High palate, Thickened helices, Low-set, posteriorly...	ORPHA:1340
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker...	OMIM:617967
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Igg4-Related Submandibular Gland Disease	Pharyngitis, Cholangitis, Facial edema, Periorbital edema, Xerostomia, Enlarged lacrimal glands, ...	ORPHA:449432
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Nausea, Diarrhea, Hepatitis, Ab...	ORPHA:90062
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr...	ORPHA:163596
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent nasal bridge, Highly arched e...	OMIM:619951
Recon Progeroid Syndrome	Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow ...	OMIM:620370
Griscelli Syndrome	Encephalocele, Abnormal eyebrow morphology, Abnormal eyelash morphology, Pyloric stenosis, Hydroc...	ORPHA:381
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Polyhydramnios, Decreased nerve conduction velocity, Subdural hemorrha...	OMIM:615368
Phelan-Mcdermid Syndrome	Micrognathia, Lymphedema, Protruding ear, Gastroesophageal reflux, High palate, Patent ductus art...	OMIM:606232
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Hearing impairment, Alobar holoprosencephaly, Micr...	OMIM:301043
15Q Overgrowth Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, High palate, Agenesis of corpus callosu...	ORPHA:314585
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Tuberous Sclerosis 1	Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino...	OMIM:191100
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Lichen Planus Pemphigoides	Conjunctivitis, Blepharitis	ORPHA:254478
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:187900
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, High palate, Otitis media, Perianal abscess, Cryptorchidism, Patent ductus arteriosus, Wi...	OMIM:612541
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel...	ORPHA:276152
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Feeding difficulties in infancy, Wheezing, ...	ORPHA:171876
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Hydrocephalus, Macrotia	OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Developmental cataract	ORPHA:324416
Alkuraya-Kucinskas Syndrome	Cataract, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Edema...	OMIM:617822
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Diarrhea, C...	ORPHA:411703
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Congenital Sialidosis Type 2	Abnormal EKG, Cataract, Corneal opacity, Edema, Protruding tongue, Hydrocephalus, Optic atrophy, ...	ORPHA:93400
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Optic disc pallor, Failure to thrive, Narrow nasal ridge, Highly arched ey...	OMIM:620083
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Gastrostomy tube feeding in infancy, Cachexia, Dysphagia	ORPHA:300605
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed...	ORPHA:100057
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Cataract, Depressed nasal bridge, Hydrocephalus, Cleft palate	ORPHA:2635
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Chronic ...	OMIM:615895
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Pfeiffer Syndrome Type 2	Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Aqueductal...	ORPHA:93259
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Hepatic failure,...	OMIM:615207
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy	OMIM:618174
Holoprosencephaly	Feeding difficulties in infancy, Synophrys, Depressed nasal ridge, Absent nares, Gastroesophageal...	ORPHA:2162
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Recurrent skin infections, Epistaxis, Sepsis, Recurrent bacterial infections, ...	OMIM:612840
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Cerebral ischem...	ORPHA:60040
Trisomy 8P	Conductive hearing impairment, Agenesis of corpus callosum, Bifid uvula, Heterochromia iridis, Da...	ORPHA:264450
8Q24.3 Microdeletion Syndrome	Respiratory distress, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastr...	ORPHA:508488
Keutel Syndrome	Sinusitis, Depressed nasal bridge, Cartilaginous ossification of nose, Cartilaginous ossification...	OMIM:245150
Monosomy 18Q	Mandibular prognathia, Prominent nose, Bilateral cryptorchidism, Choanal stenosis, High palate, D...	ORPHA:1600
Self-Improving Dystrophic Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79411
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Trichiasis, Highly arche...	OMIM:618460
Acalvaria	Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Carious teeth, Cupped ear, Lacrimal duct atresia, Lacrimal duct aplasia,...	OMIM:620192
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom...	ORPHA:1018
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Sensorineural hearing impairment, Single ...	OMIM:615636
Isovaleric Acidemia	Cerebellar hemorrhage, Vomiting, Dehydration	OMIM:243500
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Recurrent herpes, Skin rash, Lymphedema, Venous insuff...	ORPHA:33276
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypoventilation, Cholangiocarcinoma, Recurrent urinary tract infecti...	ORPHA:731
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Triploidy	Low-set, posteriorly rotated ears, Cataract, Intestinal malrotation, Polyhydramnios, Micrognathia...	ORPHA:3376
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re...	OMIM:610984
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Recurrent respiratory infections, Bronchiectasis, Coiled sperm flagella, Recurr...	OMIM:620197
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Optic atrophy	OMIM:619057
Opitz-Kaveggia Syndrome	Epicanthus, Anal stenosis, Choanal atresia, Intestinal malrotation, Prominent nose, Micrognathia,...	OMIM:305450
Jacobsen Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal brid...	OMIM:147791
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha...	ORPHA:90291
Optic Pathway Glioma	Papilledema, Hydrocephalus, Optic atrophy, Vomiting, Nausea	ORPHA:2086
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,...	OMIM:167730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Uplifted earlobe, Cleft hard palate, Abnormal pupil morphology, Microcorne...	ORPHA:261552
Hydranencephaly	Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morp...	ORPHA:2177
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration	ORPHA:438134
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Feeding difficulties in infancy, High palate, Agenesis of corpus callosum, Tricuspi...	OMIM:614866
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Optic atrophy, Sensorineural hearing impairment	ORPHA:99947
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume, Simplified gyral pattern	OMIM:619072
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Acute Promyelocytic Leukemia	Abnormal bleeding, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive cou...	ORPHA:520
Dubowitz Syndrome	Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster...	ORPHA:235
Joubert Syndrome	Encephalocele, Anteverted nares, Aganglionic megacolon, Highly arched eyebrow, Prominent nasal br...	ORPHA:475
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Sensorineural hearing ...	OMIM:615249
Giant Cell Arteritis	Anorexia, Gastrointestinal infarctions, Cough, Conductive hearing impairment, Meningitis, Abdomin...	ORPHA:397
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Cryptorchidism, Patent ductus arterio...	OMIM:616682
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Recurrent skin infections, Predominantly lower limb lymphedema, Edema of the dorsu...	ORPHA:568051
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Telecanthus, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Hyd...	OMIM:601499
Genitourinary And/Or Brain Malformation Syndrome	Epicanthus, Aplasia of the nasal bone, Jejunal atresia, Streak ovary, Ileal atresia, Micrognathia...	OMIM:618820
Developmental And Epileptic Encephalopathy 49	Thick eyebrow, Ventriculomegaly, Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Optic...	OMIM:617281
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2165
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Fanconi Anemia, Complementation Group E	Cryptorchidism, Leukemia, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle	OMIM:600901
Walker-Warburg Syndrome	Ventriculomegaly, Cataract, Corneal opacity, Posteriorly rotated ears, Cryptorchidism, Hydrocepha...	ORPHA:899
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio...	ORPHA:209964
Adenohypophysitis	Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin concentration, De...	ORPHA:95512
Sunct Syndrome	Ptosis, Palpebral edema, Facial edema, Nasal congestion, Vomiting, Conjunctival hyperemia, Nausea...	ORPHA:57145
Cockayne Syndrome	Feeding difficulties in infancy, Retinal arteriolar constriction, Lentiglobus, Gastroesophageal r...	ORPHA:191
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Ectropion	OMIM:278750
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of...	OMIM:278760
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Overweight, Feeding difficulties in infancy, Asthma, Hydrocephalus, Chronic di...	ORPHA:500055
Panhypophysitis	Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin concentration, De...	ORPHA:95513
Fanconi Anemia	Abnormal eyelid morphology, Micrognathia, High palate, Spina bifida, Aplasia/Hypoplasia of the uv...	ORPHA:84
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu...	OMIM:616576
Smith-Lemli-Opitz Syndrome	Micrognathia, Facial capillary hemangioma, Partial agenesis of the corpus callosum, Gastrointesti...	OMIM:270400
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu...	ORPHA:2688
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Gastrointestinal hemorrhage, Epicanthus, Depressed nasal bridge, Congestive heart fa...	OMIM:225400
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Gray matter heterotopia, Short columella, Hypothalamic h...	OMIM:619775
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Hypoplasia of the epiglottis, Conductive hearing impairment, Abnormal s...	ORPHA:2363
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Weig...	ORPHA:913
Idiopathic Congenital Hypothyroidism	Depressed nasal bridge, Feeding difficulties in infancy, Facial edema, Macroglossia, Constipation...	ORPHA:95717
Cerebrooculonasal Syndrome	High palate, Conductive hearing impairment, Iris coloboma, Dandy-Walker malformation, Encephaloce...	OMIM:605627
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Hydrops fetalis, Gastroesophageal reflux, Aspiratio...	ORPHA:354
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Dilation of Virchow-Robin spaces, Small for gestat...	ORPHA:261311
L1 Syndrome	Nausea and vomiting, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Depression	ORPHA:275543
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Abnormal aortic arch mor...	ORPHA:2306
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Hypoplasia of ...	ORPHA:169090
Xeroderma Pigmentosum, Complementation Group A	Entropion, Keratitis, Sensorineural hearing impairment, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278700
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Abdominal pain, Abnormal ...	ORPHA:100050
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Spina b...	OMIM:613776
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level, Neurodegeneration	OMIM:620210
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278740
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Highly...	ORPHA:2318
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Hydroc...	ORPHA:398124
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Uplifted earlobe, Cleft hard palate, Agenesis of corpus callosum, Iris col...	ORPHA:261537
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Overriding aorta, Sclerocornea, Junctional ectopic tachycardia, Hydrocephalus, Cleft pa...	OMIM:309801
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate, Spi...	ORPHA:1926
Endocrine-Cerebroosteodysplasia	Natal tooth, Polyhydramnios, Micrognathia, Laryngeal hypoplasia, Cryptorchidism, Hydrocephalus, W...	OMIM:612651
Pituitary Deficiency Due To Rathke Cleft Cysts	Hypogonadotropic hypogonadism, Hydrocephalus, Intracranial hemorrhage, Abnormality of the sphenoi...	ORPHA:91350
Necrobiosis Lipoidica	Squamous cell carcinoma	ORPHA:542592
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy	OMIM:617672
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Depressed nasal bridge, Convex nasal ridge, Posteriorly rotated ears, Micrognathia, Cryptorchidis...	OMIM:241410
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Chronic Hiccup	Dehydration, Weight loss, Malnutrition, Depression	ORPHA:396
Plague	Respiratory distress, Chapped lip, Glossitis, Anorexia, Edema, Lymphadenitis, Sepsis, Bloody diar...	ORPHA:707
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Synophrys, Protruding ear, Vomiting, High palate, Otitis media, Juvenile cat...	OMIM:619475
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Polyhydramnios, Micrognathia, Bilateral ptosis, Synophrys, Wide nasal br...	OMIM:620351
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuo...	OMIM:175780
Kindler Epidermolysis Bullosa	Laryngeal stenosis, Corneal opacity, Recurrent skin infections, Abnormal dental enamel morphology...	ORPHA:2908
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Tinnitus, Nausea	ORPHA:231625
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Epicanthus, Posteriorly rotated ears, Carious teeth, Recurrent pneumonia...	OMIM:608233
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Edema, Vasculitis, Cranio...	ORPHA:324964
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,...	OMIM:619472
7Q11.23 Microduplication Syndrome	Micrognathia, Abnormal optic disc morphology, High palate, Chronic otitis media, Low-set, posteri...	ORPHA:96121
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Abdominal distention, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing ent...	ORPHA:103910
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Laryngeal atresia, ...	OMIM:314390
Immunodeficiency 70	Celiac disease, Retinal vasculitis, Colitis, Recurrent sinusitis, Furuncle, Achalasia	OMIM:618969
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Recurrent respiratory infections, Protein-losing enteropathy, Increased CSF alanine concentration...	OMIM:619063
Igg4-Related Kidney Disease	Lymphadenitis, Pedal edema, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Meningitis...	ORPHA:449395
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:99880
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abdominal pain, Bronchie...	ORPHA:99921
47,Xyy Syndrome	Male infertility, Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermia, Low-set ea...	ORPHA:8
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pericardial effusion, Dyspnea, A...	ORPHA:464329
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Coccidioidomycosis	Respiratory distress, Cough, Morbilliform rash, Vasculitis, Vasospasm, Hypoglycorrhachia, Abnorma...	ORPHA:228123
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Sepsis, Dila...	OMIM:619573
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Synophrys, High palate, Conductive hearing impairment, Iris...	OMIM:102500
Spermatogenic Failure 14	Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ...	OMIM:615842
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus, Hypertension	OMIM:615862
Wilson Disease	Acute hepatic failure, Failure to thrive, Abnormality of the menstrual cycle, Hepatitis, Increase...	ORPHA:905
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Diarrhea, Hepatitis, Sepsis, Chronic hepatitis, Hypoxemia, Sclerosing cholangi...	OMIM:308230
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Bulbous nose, Convex nasal ridge, Recurrent viral infections	ORPHA:169079
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Abnor...	ORPHA:79259
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Menorr...	ORPHA:168816
Cockayne Syndrome Type 3	Microcornea, Lentiglobus, Gastroesophageal reflux, Adult onset sensorineural hearing impairment, ...	ORPHA:90324
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem	OMIM:612319
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Abnormal cerebral vascular morphology, Pulmonary ...	ORPHA:3205
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Juvenile Huntington Disease	Irritability, Weight loss, Ventriculomegaly, Depression	ORPHA:248111
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Osteomyelitis, Facial palsy, Carious teeth, Hydrocephalus, Optic atrophy, Faci...	OMIM:259700
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Sen...	OMIM:148210
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Hamartoma of tongu...	OMIM:311200
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278720
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Choanal atresia	OMIM:612247
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin...	ORPHA:330001
Mucopolysaccharidosis Type 3	Adenoiditis, Synophrys, Atrioventricular block, Otitis media, Aspiration pneumonia, Chronic otiti...	ORPHA:581
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Trac...	OMIM:300514
Thalidomide Embryopathy	Anotia, Chronic rhinitis, Hearing impairment	ORPHA:3312
Immunodeficiency 31C	Recurrent respiratory infections, Villous atrophy, Osteomyelitis, Eczema, Cough, Diarrhea, Coccid...	OMIM:614162
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating...	ORPHA:90793
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea,...	ORPHA:1806
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma	OMIM:602540
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati...	ORPHA:137667
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:143
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Development...	OMIM:171300
Tetrasomy 15Q26	Microretrognathia, Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Cupped ear, ...	OMIM:614846
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Recurrent respiratory infections, Anteverted nares, Patent ductus arteriosus...	ORPHA:1842
Mend Syndrome	Telecanthus, Cataract, Failure to thrive, Prominent nasal bridge, Abnormal auditory evoked potent...	ORPHA:401973
Acute Transverse Myelitis	Orthostatic hypotension, Invasive parasitic infection, Gastroparesis, Abnormal libido, Subarachno...	ORPHA:139417
Lateral Meningocele Syndrome	Telecanthus, Posteriorly rotated ears, Micrognathia, Abnormality of the middle ear ossicles, Cryp...	OMIM:130720
Sarcoidosis	Abnormal nasal mucosa morphology, Abnormal cerebrospinal fluid morphology, Heart block, Ventricul...	ORPHA:797
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Aortic valve stenosis	OMIM:615599
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97278
Erythrokeratodermia Variabilis	Cataract, Skin rash, Corneal opacity, Protruding ear, Weight loss, Abnormal testis morphology, He...	ORPHA:317
Malignant Peritoneal Mesothelioma	Abdominal pain, Dyspnea, Peritonitis, Ileus, Abdominal distention, Pedal edema, Weight loss, Ascites	ORPHA:168811
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Edema, Bloody diarrhea, Chilblains, Pericardial effusion, Vasculitis, Hepatit...	OMIM:615846
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Tene...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Tene...	ORPHA:100082
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Ascites	ORPHA:284227
Distal Triplication 15Q	Telecanthus, Corneal dystrophy, Micrognathia, Large for gestational age, Patent ductus arteriosus...	ORPHA:314588
Holoprosencephaly 14	Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hyd...	OMIM:619895
Hurler Syndrome	Aortic regurgitation, Recurrent respiratory infections, Corneal opacity, Anteverted nares, Depres...	OMIM:607014
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Hydroc...	OMIM:101600
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:608644
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil...	ORPHA:99901
Lhermitte-Duclos Disease	Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Prominent nasal bridge, Cachexia, Micrognathia	ORPHA:2058
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Recurrent otitis media, Ciliary...	OMIM:613193
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, High, narrow palate, Hydrocephalus	ORPHA:2181
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Rift Valley Fever	Abnormal bleeding, Skin rash, Anorexia, Hematemesis, CSF pleocytosis, Severe viral infection, Hep...	ORPHA:319251
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal ...	ORPHA:1865
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Colpocephaly, Astigmatism, Decreased body weight, Conductive hearing impa...	OMIM:609053
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, P...	ORPHA:85202
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, A...	OMIM:276950
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Anteverted nares, Depressed nasal bridge, Sparse eyebrow, Opt...	ORPHA:495875
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Feeding difficulties, Hypertension, Vomiting, Failure to thrive, Ventriculomegaly,...	ORPHA:2169
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Agenesis of corpus ...	ORPHA:2556
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ...	ORPHA:103907
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Sclerocornea, Cryptorchidism, Hydrocephalus, Hypoplasia of ...	OMIM:613001
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Depressed nasal bridge, Palpebral edema, Edema, Polyhydramnios,...	OMIM:265300
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Micrognathia, Lymphedema, High, narrow palate, Delayed early-childhood soc...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Micrognathia, Lymphedema, High, narrow palate, Delayed early-childhood soc...	ORPHA:99228
Monosomy X	Myocardial infarction, Micrognathia, Lymphedema, High, narrow palate, Delayed early-childhood soc...	ORPHA:99226
Turner Syndrome	Myocardial infarction, Micrognathia, Lymphedema, High, narrow palate, Delayed early-childhood soc...	ORPHA:881
Fanconi Anemia, Complementation Group C	Cryptorchidism, Leukemia, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle	OMIM:227645
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Pseudotrisomy 13 Syndrome	Encephalocele, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Ups...	OMIM:264480
Attrv30M Amyloidosis	Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Constipation, Abnormal ...	ORPHA:85447
Neuroendocrine Tumor Of Stomach	Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Tricu...	ORPHA:100075
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Classical-Like Ehlers-Danlos Syndrome Type 2	Long uvula, Carotid artery stenosis, Micrognathia, Pericardial effusion, Bilateral ptosis, Macrot...	ORPHA:536532
Congenital Disorder Of Glycosylation, Type Ih	Edema, Abdominal distention, Patent ductus arteriosus, Diarrhea, Cryptorchidism, Ascites, Vomitin...	OMIM:608104
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Malar flattening, Dyspnea, Bulbous nos...	ORPHA:261279
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea	ORPHA:247768
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn...	OMIM:232300
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Prolonged G2 phase of cell cycl...	OMIM:227646
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,...	ORPHA:508533
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Sinusitis, Micrognathia, Hydrocephalus, Protruding ear, Mitral regurgitation, Abnorma...	ORPHA:363700
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97283
Grfoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97261
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Facial edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Abnor...	ORPHA:79078
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Thyroid lymphangiectasia, Micrognathia, Pancreatic lymphangiectasis, Abdominal di...	OMIM:235255
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Abnormal libido, Pancreatoblastoma, Pituitary cor...	ORPHA:99889
Huntington Disease	Oral-pharyngeal dysphagia, Depression, Abnormality of the sense of smell, Irritability, Weight lo...	ORPHA:399
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased nuchal...	ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Cataract, Corneal opacity, Optic nerve hypoplasia, Mic...	OMIM:236670
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Cardio...	ORPHA:79327
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Brain atrophy, Agenesis of corpu...	OMIM:214150
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism	OMIM:601794
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia,...	OMIM:182212
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis	OMIM:200400
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Lymphedema,...	ORPHA:2176
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Small earlobe, Agenesis of corpus callosum, Dandy-Walker malformation, Absent eyebr...	OMIM:264090
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Synophrys, Periodontitis, Iris coloboma, Anteverted nares, ...	ORPHA:955
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Nonproductive cough, Xerostomia, Tubulointerstitial nephritis...	ORPHA:289390
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Pyloric ste...	OMIM:615577
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Meningitis, ...	ORPHA:1546
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Mohr Syndrome	Telecanthus, Depressed nasal bridge, Broad nasal tip, Bifid nasal tip, Micrognathia, Hydrocephalu...	OMIM:252100
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Reduced force...	OMIM:613686
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Depressed nasal bridge, Anteverted ...	OMIM:101800
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Abdominal colic, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thrive	OMIM:615863
Otopalatodigital Syndrome Type 2	Encephalocele, Cataract, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Myelome...	ORPHA:90652
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Hearing impairment, Hydrocephalus, Recurrent upper respiratory tract...	OMIM:253220
Neurooculorenal Syndrome	Subglottic stenosis, Iris atrophy, Mixed hearing impairment, Intestinal malrotation, Highly arche...	OMIM:620305
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Meningitis, Recurrent pneumonia, Vasculitis, Bloody diarrhea, Hematochezia, Subconjunc...	OMIM:617718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Respiratory insuff...	OMIM:253800
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Systemic Capillary Leak Syndrome	Pericarditis, Pulmonary edema, Abdominal pain, Myocarditis, Diarrhea, Cardiorespiratory arrest, W...	ORPHA:188
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Hearing impairment...	ORPHA:2907
Fountain Syndrome	Craniofacial hyperostosis, Epicanthus, Spina bifida, Facial edema, Synophrys, Sensorineural heari...	ORPHA:3219
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Cr...	ORPHA:90362
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack...	ORPHA:100080
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Wide nose, Abnormal eyelash morpholog...	ORPHA:2399
Hepatoerythropoietic Porphyria	Abnormal bleeding, Recurrent bacterial skin infections, Erythrodontia, Nonimmune hydrops fetalis,...	ORPHA:95159
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Tricuspid regurgitation, Corneal opacity, Pneumonia, Depressed nasal b...	OMIM:253200
8P23.1 Microdeletion Syndrome	Epicanthus, Prominent nasal bridge, Micrognathia, External ear malformation, Cryptorchidism, Pate...	ORPHA:251071
Holoprosencephaly 4	Semilobar holoprosencephaly, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nas...	OMIM:142946
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration	OMIM:615643
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Heart block, High, narrow palate, Hydrocephalus, Feeding difficult...	ORPHA:228308
Pettigrew Syndrome	Mandibular prognathia, Prominent nose, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing ...	OMIM:304340
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronchiec...	OMIM:616005
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Aymé-Gripp Syndrome	Shallow orbits, Megalocornea, Depressed nasal bridge, Pericardial effusion, Cryptorchidism, Paten...	ORPHA:1272
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Recurrent bacterial infections, Subcutaneous hemorrhage, Pulmonary hemorrhage	OMIM:603585
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Vascular ring, Mitral regurgitation, Long palpebral fissure, Ventriculomegaly, Ptosis	OMIM:603387
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Portal ...	ORPHA:1454
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Protruding ear, Gastroesophageal reflux, High palate, Simple ear, Anteve...	OMIM:619325
Familial Thyroid Dyshormonogenesis	Depressed nasal bridge, Feeding difficulties in infancy, Facial edema, Sensorineural hearing impa...	ORPHA:95716
Kabuki Syndrome	Protruding ear, Microcornea, High palate, Conductive hearing impairment, Highly arched eyebrow, C...	ORPHA:2322
Seckel Syndrome	Abnormal dental enamel morphology, Cachexia, Micrognathia, Absent earlobe, Abnormal earlobe morph...	ORPHA:808
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep...	ORPHA:65682
Neuraminidase Deficiency	Cataract, Bone-marrow foam cells, Facial edema, Sensorineural hearing impairment, Hydrops fetalis...	OMIM:256550
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, C...	ORPHA:309031
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Melena, Paralytic ileus, Pro...	OMIM:276700
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca	OMIM:619016
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Posteriorly rotated ears, Intestinal malrotation, Hamartoma of tongue, A...	OMIM:269860
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, T...	ORPHA:2437
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Abnormal nasal morphology, Cryptorchidism, Wide nasal b...	ORPHA:404440
Immunodeficiency 33	Delayed eruption of teeth, Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Diss...	OMIM:300636
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Abdominal pain, Congestiv...	ORPHA:465508
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Tricuspi...	ORPHA:261337
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Recurrent bacterial infections, Sensorineural hearing impairment	OMIM:610738
Muenke Syndrome	High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, Malar flattening, Ptosis	ORPHA:53271
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Exocrine pancreatic insufficiency, Hepatitis, Chronic mucocutaneous c...	OMIM:269200
Raine Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, Choanal stenosis, High palate, Neonatal deat...	OMIM:259775
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ...	OMIM:261740
Chikungunya	Abnormal bleeding, Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud pheno...	ORPHA:324625
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:613668
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Corneal opacity, Hearing impairment, External ear malformation, Cryptorchidism,...	ORPHA:1647
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Iridocyclitis, Xerostomia, He...	ORPHA:227990
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus, Vomiting, Nausea	OMIM:260500
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Hydrocephalus, Episodic abdominal pain, Tubulointerstitial nephrit...	ORPHA:157
Limb-Mammary Syndrome	Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Small for gestational age, Protuberant abdomen	OMIM:613330
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Lobulated tongue, Agenesis of corpus callosum, Iris colobo...	OMIM:249000
Abetalipoproteinemia	Abnormal bleeding, Failure to thrive, Congestive heart failure, Chronic diarrhea, Keratoconjuncti...	ORPHA:14
Fraser Syndrome 1	Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Malformed lacrimal duct, Laryngeal atres...	OMIM:219000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Low-frequency sensorineural hearing impairment, Col...	OMIM:613101
Achondroplasia	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Obesity, Hypoxemia, Restrictive ventilat...	ORPHA:15
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion, Optic atrophy	ORPHA:254881
Chédiak-Higashi Syndrome	Abnormal bleeding, Recurrent bacterial skin infections, Recurrent respiratory infections, Skin ra...	ORPHA:167
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Hypospadias, Myelodysplasia, Phimo...	OMIM:305000
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Odynophagia, Jaw claudication, Malnutrition...	ORPHA:221098
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Uveitis, Neoplasm of the gallbladder, Adenocarcinoma of...	ORPHA:171
Pneumocystosis	Respiratory failure requiring assisted ventilation, Pneumocystis jirovecii pneumonia, Nonproducti...	ORPHA:723
Muscle-Eye-Brain Disease	Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Facial diplegia, Hypertrophic cardiomyopathy, Bifid uvula, Ventriculomegal...	OMIM:619121
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Weight loss, Depression, Failure to thrive	ORPHA:178029
Rat-Bite Fever	Pharyngitis, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, P...	ORPHA:31205
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Gast...	OMIM:612289
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Cataract, Optic nerve hypoplasia	OMIM:615181
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Nausea and vomiting, Epicanthus, Apnea, Malabsorption, Decreased nerve conduction ve...	ORPHA:285
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Iridocyclitis, Xerostomia, He...	ORPHA:227982
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Single naris, Microcornea, Abnormality of the maxilla...	ORPHA:141099
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Xerostomia, Neurodegeneration	ORPHA:803
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Dyspnea, Congestive heart failure, Diarrhea, Gastrointest...	ORPHA:67
Ehlers-Danlos Syndrome, Classic Type, 1	Epicanthus, Ectopia lentis, Osteoarthritis, Aortic root aneurysm, Recurrent sinusitis, Recurrent ...	OMIM:130000
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Poor appetite, Nonproduc...	ORPHA:97287
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absent lower eyel...	OMIM:154400
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebral atrophy	OMIM:256600
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Abdominal pain, Raynaud phenomenon, Weig...	ORPHA:767
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In...	ORPHA:424019
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Acne, Irregular menstruation, Testicular adrenal rest tumor, Intracranial hemorrhage, Hypertension	ORPHA:90795
Achondroplasia	Respiratory distress, Depressed nasal bridge, Polyhydramnios, Conductive hearing impairment, Hydr...	OMIM:100800
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Anteverted nares, Spontaneous pneumothorax, Polyhydramnios, Lymphedema, Synophrys, Feeding diffic...	OMIM:618154
Genitopalatocardiac Syndrome	Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Cleft palate, Low-set ears, Downs...	ORPHA:2075
Hemangioblastoma	Nausea and vomiting, Retinal capillary hemangioma, Hydrocephalus, Hypoactive bowel sounds	ORPHA:252054
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Micrognathia, Microcornea, High palate, Anteverted nares, Depressed nasal b...	ORPHA:536467
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Cataract, Depression, Hematochezia, Stroke-like episode, Hypogonadism	ORPHA:79095
Galactose Epimerase Deficiency	Nausea and vomiting, Cataract, Feeding difficulties, Weight loss	ORPHA:79238
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Sensorineural...	ORPHA:585
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Hepatic failure, Obesity, Ventriculomegaly	OMIM:615630
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Hydrocephalus, Depressed nasal ridge, Low-set ears, Short nose	ORPHA:163966
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm...	ORPHA:93958
Mend Syndrome	Microretrognathia, Failure to thrive, Cataract, Posteriorly rotated ears, Prominent nasal bridge,...	OMIM:300960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Cataract, Optic nerve hypoplasia, Partial agenesis of the corpus...	OMIM:614643
Marburg Hemorrhagic Fever	Anorexia, Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Dehydration, Vomiting, Conj...	ORPHA:99826
Fraser Syndrome 3	Wide nose, Convex nasal ridge, Nonimmune hydrops fetalis, Micrognathia, Hydrocephalus, Oligohydra...	OMIM:617667
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema	OMIM:300299
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Abdominal pain, Ascites, Malabsorption	ORPHA:100025
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Intestinal malrotation, Micrognathia, Hydrocephalus, Choroid plexus cyst, Ventriculom...	OMIM:617866
Angioedema, Hereditary, 3	Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic upper airway obstruction, ...	OMIM:610618
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Aase-Smith Syndrome I	Abnormal pinna morphology, Hydrocephalus, Cleft palate, Dandy-Walker malformation, Ptosis	OMIM:147800
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Hydrocephalus, Depressed nasal ridge, Short nose	OMIM:300863
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe...	ORPHA:90796
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Optic nerve hypoplasia, Upper eyelid entropion, Facial hypotonia, Hydrocephalus...	ORPHA:457284
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Refractory Celiac Disease	Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia...	ORPHA:398063
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Short Syndrome	Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Poor appetite, Abnormal zygomati...	ORPHA:3163
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Recurrent abscess formation, Intractable diarrhea, ...	OMIM:619381
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca...	ORPHA:157794
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Anteverted nares, Cachexia, Anorexia, Midline defect of the nose, Short hard palate, Ptosis	ORPHA:1969
Cowden Syndrome 6	Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr...	OMIM:615109
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea, Feeding difficulties in infancy, Hydrocephalus, Optic atrophy, Stroke, Failure to thrive, ...	ORPHA:395
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Wide nasal bridge, H...	OMIM:104350
Congenital Disorder Of Glycosylation, Type Ib	Abnormal bleeding, Villous atrophy, Edema, Diarrhea, Hepatic failure, Vomiting, Protein-losing en...	OMIM:602579
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter, Squamous cell carcinoma	OMIM:618373
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Agenesis of corpus callosum, Neuronal loss in central nervous system, Neurode...	OMIM:616239
Thymic Carcinoma	Palpebral edema, Edema, Dyspnea, Weight loss, Cough, Abnormal vena cava morphology	ORPHA:99868
Dpagt1-Cdg	Prolonged QT interval, Optic atrophy, Developmental cataract, Intracranial hemorrhage, Stroke-lik...	ORPHA:86309
Yunis-Varon Syndrome	Sclerocornea, Micrognathia, Polyhydramnios, High, narrow palate, Hydrops fetalis, Glossoptosis, A...	ORPHA:3472
Genitopatellar Syndrome	Delayed eruption of teeth, Wide nose, Anal stenosis, Prominent nasal bridge, Polyhydramnios, Prom...	OMIM:606170
Hereditary Central Diabetes Insipidus	Irritability, Diarrhea, Vomiting, Weight loss	ORPHA:30925
Camurati-Engelmann Disease	Delayed eruption of teeth, Facial palsy, Cachexia, Anorexia, Carious teeth, Feeding difficulties ...	ORPHA:1328
Hardikar Syndrome	Cholangitis, Vomiting, Cleft soft palate, Portal hypertension, Abdominal pain, Patent ductus arte...	OMIM:301068
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Epicanthus, Sensorineural hearing impairment, Depressed nasal ridge, Macro...	OMIM:248500
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nose, Patent ductus arteriosus, Abnormal thal...	ORPHA:435638
Visceral Myopathy 2	Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
Norrie Disease	Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ...	ORPHA:649
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormality of the diencephalon	ORPHA:2720
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorptio...	OMIM:214950
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Abnormal pinna morphology, Eczema, Absent eyelashes, Cleft palate, Conjunctival h...	ORPHA:2890
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Marden-Walker Syndrome	Failure to thrive, Posteriorly rotated ears, Micrognathia, Pyloric stenosis, Hydrocephalus, Submu...	ORPHA:2461
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Polyhydramnios	OMIM:616873
Q Fever	Respiratory distress, Anorexia, Abnormal left ventricular function, Cholecystitis, Cough, Meningi...	ORPHA:781
Complement Component 5 Deficiency	Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz...	OMIM:609536
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Sensorineural hearing impairment, Recurrent bacterial infections, Eczemato...	OMIM:619693
Cole-Carpenter Syndrome 2	Microretrognathia, Hydrocephalus, High palate, Downslanted palpebral fissures, Dentinogenesis imp...	OMIM:616294
Congenital Erythropoietic Porphyria	Abnormal bleeding, Recurrent bacterial skin infections, Erythrodontia, Nonimmune hydrops fetalis,...	ORPHA:79277
Huntington Disease-Like 2	Irritability, Weight loss, Depression	OMIM:606438
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Central apnea, Depressed nasal bridge, Episodic ...	OMIM:608091
Holoprosencephaly 9	Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Hypoplasia of the m...	OMIM:610829
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Vacterl With Hydrocephalus	Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydr...	ORPHA:3412
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Lymphedema, Thick nasal alae, Anteverted nares, Depres...	ORPHA:744
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Micrognathia, Hydrocephalus, Optic atrophy, Irritability, Respir...	OMIM:259720
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Depressed nasal ridge, Conductive hearing impairment...	ORPHA:99843
Monosomy 22	Aplasia of the thymus, Schwannoma, Gonadal neoplasm, Meningioma, Sarcoma	ORPHA:96123
Chronic Beryllium Disease	Pharyngitis, Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testi...	ORPHA:133
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Polyhydramnios, Hydrocephalus, Protuberant abdomen, Neonatal death	OMIM:187600
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Sparse eyelashes, Skin rash, Telangiectasia of the skin, Abnormal dent...	ORPHA:2909
Immunodeficiency 13	Nasal polyposis, Recurrent shingles, Recurrent pneumonia, Recurrent upper respiratory tract infec...	OMIM:615518
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Cleft palate, Conotruncal defect, Microtia, Anotia	OMIM:243440
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Cough, Weight loss, Aspiration pneumonia, Dysphagia	ORPHA:216866
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Conical incisor, Periorbital fullness, Conjunctivitis, Corne...	OMIM:149730
Neurofibromatosis Type 1	Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo...	ORPHA:636
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Monosomy 22Q13.3	Nausea and vomiting, Epicanthus, Recurrent skin infections, Palpebral edema, Hearing impairment, ...	ORPHA:48652
Recessive Dystrophic Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79409
Arachnoiditis	Hydrocephalus, Meningitis, Tinnitus, Hearing impairment	ORPHA:137817
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Osteoarthritis, Subdural hemorrhage, Wide nasal bridge, Long ear, Short pa...	OMIM:619714
Costello Syndrome	Polyhydramnios, Micrognathia, High palate, Lymphangiectasis, Anteverted nares, Depressed nasal br...	OMIM:218040
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy, Failure to thrive,...	ORPHA:95428
Tetrasomy 9P	Myositis, Micrognathia, Inappropriate behavior, High palate, Bifid uvula, Dandy-Walker malformati...	ORPHA:3310
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin...	ORPHA:70475
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Adult Syndrome	Conjunctivitis, Eczema, Nasolacrimal duct obstruction	OMIM:103285
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hydrocephalus, Hypoplasia of the ...	OMIM:614195
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Intestinal malrot...	ORPHA:2166
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc...	ORPHA:91348
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Spina bifida, Micrognathia, Hydrocephalus, Cleft palate, Microcornea, ...	ORPHA:2839
Follicular Lymphoma	Lymphedema, Pleural effusion, Meningitis, Weight loss	ORPHA:545
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Congestive heart failure, Emphysema, Intracranial hemorrhage, H...	ORPHA:363618
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Hydrocephalus, Cleft palate, Macroglossia, Persistent pupillary membrane...	OMIM:613150
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Ocular albinism, Hematochezia, Cardiomyopathy...	OMIM:203300
Oculoskeletodental Syndrome	Epicanthus, Small for gestational age, Cryptorchidism, Wide nasal bridge, Developmental cataract,...	OMIM:618440
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, Broad nasal tip, Micrognathia, Pancreatic lymphangiectasis, Abdominal distention,...	ORPHA:1655
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Feeding difficulties in infancy, Synophrys, Large fleshy ears, Gastroesophageal reflux, High pala...	ORPHA:280633
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal nasolacrimal system morphology, Facial palsy, Choanal atresia, Ab...	ORPHA:2658
Wolf-Hirschhorn Syndrome	Micrognathia, Gastroesophageal reflux, Conductive hearing impairment, Agenesis of corpus callosum...	OMIM:194190
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, T2 hypointense thalamus	ORPHA:1947
Huntington Disease-Like 1	Weight loss, Ventriculomegaly, Depression	ORPHA:157941
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy	OMIM:615157
Fanconi Anemia, Complementation Group L	Micrognathia, Esophageal atresia, Hydrocephalus, Wide nasal bridge, Tracheoesophageal fistula, De...	OMIM:614083
Neurofibromatosis, Type I	Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl...	OMIM:162200
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Phimosis, Small cell lung carcinoma, Cryptorch...	ORPHA:821
Reynolds Syndrome	Gastrointestinal hemorrhage, Erythema nodosum, Raynaud phenomenon, Lip telangiectasia, Palmar tel...	OMIM:613471
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Lens luxation, Ectopia lentis, Micrognathia, Hydrocephalus, Cleft palate, Shallow ...	OMIM:224400
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebral atrophy	ORPHA:391428
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan...	ORPHA:3208
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D...	ORPHA:263665
Fetal Akinesia Deformation Sequence 1	Telecanthus, Small for gestational age, Posteriorly rotated ears, Polyhydramnios, Micrognathia, N...	OMIM:208150
Perry Syndrome	Weight loss, Central hypoventilation, Hypotension, Depression	ORPHA:178509
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Micrognathia, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory t...	OMIM:618183
Bloom Syndrome	Decreased fertility in females, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infec...	OMIM:210900
Glycogen Storage Disease Ib	Gout, Xanthelasma, Inflammation of the large intestine, Hypertension, Recurrent bacterial infecti...	OMIM:232220
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Laryngotracheal stenosis, Upper airway obstruction, Dysphagia, Wei...	ORPHA:142
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Poor appetite, Erythroderma	ORPHA:312
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:300894
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Poor appetite, Abnormal eyelid morphology, Chronic diarrhea, Weight ...	ORPHA:2221
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Right ventricular failure, Dyspnea, Diarrhea, Abdominal distention, Heart murmur, Weigh...	ORPHA:100085
Porphyria, Congenital Erythropoietic	Absent eyebrow, Erythrodontia, Loss of eyelashes, Corneal scarring, Increased fecal coproporphyri...	OMIM:263700
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Anteverted nares, Narrow nasal tip, Sparse eyebrow, Bilateral ptosis, Synophrys, Cryptorchidism, ...	ORPHA:477993
Campomelic Dysplasia	Respiratory distress, Apnea, Polyhydramnios, Micrognathia, Depressed nasal ridge, High palate, Co...	OMIM:114290
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Loss of facial adipose tissue, Cryptorchidism, Hypoplasia ...	OMIM:216400
Radial Aplasia, X-Linked	Hydrocephalus, Anal atresia	OMIM:312190
Dextrocardia	Abnormal EKG, Intestinal malrotation, Hydrocephalus, T-wave inversion, Congenital malformation of...	ORPHA:1666
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Cataract, Large for gestational age, Hydrocephalus, Thicke...	ORPHA:77301
Classic Hodgkin Lymphoma	Skin rash, Anorexia, Poor appetite, Respiratory insufficiency, Weight loss, Cough	ORPHA:391
Bile Acid Synthesis Defect, Congenital, 3	Diarrhea, Hepatic failure, Hepatitis, Hematochezia, Prolonged prothrombin time, Acholic stools, S...	OMIM:613812
Ileal Neuroendocrine Tumor	Edema, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intestinal obstruction,...	ORPHA:100078
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Minimal change glomerulonephritis, Dyspnea, Abdominal...	ORPHA:567546
Gaucher Disease	Abnormal bleeding, Osteomyelitis, Corneal opacity, Abdominal pain, Feeding difficulties in infanc...	ORPHA:355
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Depressed nasal bridge, Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Overweight, Feedin...	ORPHA:226307
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Abdominal diste...	OMIM:617300
Immunodeficiency 10	Hypoplasia of the iris, Recurrent bacterial infections, Recurrent infections, Amelogenesis imperf...	OMIM:612783
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Premature ovarian insufficiency, Small for gestational age, Abnormal d...	ORPHA:221008
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Bowel incontinence	OMIM:236690
Caroli Syndrome	Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hemateme...	ORPHA:480520
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Anteverted nares, Posteriorly rotated ears, Synophrys, Protruding ear...	OMIM:618479
Leptospirosis	Respiratory distress, First degree atrioventricular block, Anorexia, Uveitis, Cough, Conjunctival...	ORPHA:509
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Slender nose, Small for gestational age, Abnormal dental enamel morpho...	ORPHA:221016
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Polyhydramnios, Aqueductal stenosis, Dextrotransposition of the great arter...	OMIM:306955
Tarp Syndrome	Apnea, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Anteverted n...	ORPHA:2886
Pallister-Hall Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Decreased response to growth hormone s...	OMIM:146510
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Synophrys, Hi...	OMIM:213980
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Anteriorly placed anus, Choanal stenosis, Gastroesophageal reflux, Conductiv...	ORPHA:95699
Baller-Gerold Syndrome	Micrognathia, Anteriorly placed anus, Choanal stenosis, High palate, Conductive hearing impairmen...	OMIM:218600
Peutz-Jeghers Syndrome	Nasal polyposis, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamar...	OMIM:175200
Bullous Pemphigoid	Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss	ORPHA:703
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Micrognathia, Neonatal death, Neonatal respiratory distress, Nonimmune hydrops fe...	OMIM:265380
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Cataract, Failure to thrive in infancy, Poor appe...	ORPHA:247598
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Hydrocephalus, Upper airway o...	OMIM:207410
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes, Recurrent infections	OMIM:258360
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Duodenal polyposis, Hepatoblastoma, Broad nasal tip, Micrognathia, Adenoma...	ORPHA:261584
Thymoma	Myositis, Glomerulonephritis, Dyspnea, Ulcerative colitis, Weight loss, Obstruction of the superi...	ORPHA:99867
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Spontaneous, recurrent epistaxis, Recurrent systemic pyogeni...	OMIM:214500
Knobloch Syndrome	Occipital encephalocele, Epicanthus, Cataract, Depressed nasal bridge, Ectopia lentis, Pyloric st...	ORPHA:1571
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Hypothalamic hamartoma	OMIM:619908
Fanconi Anemia, Complementation Group P	Cryptorchidism, Squamous cell carcinoma	OMIM:613951
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Partial agenesis of the corpus callosum, Polyhydramnios	ORPHA:86822
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Isolated Thyroid-Stimulating Hormone Deficiency	Depressed nasal bridge, Feeding difficulties in infancy, Facial edema, Depression, Macroglossia, ...	ORPHA:90674
Cousin Syndrome	Hydranencephaly, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Cleft palate, Microcornea...	OMIM:260660
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Depressed nasal bridge, Hypoplasi...	ORPHA:1106
Cockayne Syndrome B	Mandibular prognathia, Microcornea, Hypoplasia of the iris, Loss of facial adipose tissue, Crypto...	OMIM:133540
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Depressed nasal bridge, Micrognathia, Prominent antitragus, Hydrocephalus, Cle...	OMIM:245600
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Protruding ear, Microcornea, High palate, Ecchymosis, Microretrognathia, Tricuspid regurgitation,...	OMIM:601776
Pmm2-Cdg	Mandibular prognathia, Respiratory distress, Prominent nose, Lymphedema, Intracranial hemorrhage,...	ORPHA:79318
Loeys-Dietz Syndrome 1	Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognathia, Descending thoraci...	OMIM:609192
Lymphatic Malformation 5	Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Focal T2 hyperintense thalamic lesion	ORPHA:79264
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Gastroparesis, Intestinal pseudo-obstruction, Weakness of facial musculature, Sensorine...	OMIM:607459
Laurin-Sandrow Syndrome	Underdeveloped nasal alae, Prominent nose, Abnormality of the nose, Hydrocephalus, Cryptorchidism...	ORPHA:2378
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic an...	OMIM:613795
Iniencephaly	Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal...	ORPHA:63259
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Dandy-Walker malformation	OMIM:611134
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest t...	ORPHA:361
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Generalized ...	OMIM:207731
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Hypoplasia of the antihelix, Prominent nasal bridg...	ORPHA:221120
Caroli Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Anorexia, Abdominal pain, Conjunctival icte...	ORPHA:53035
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipa...	ORPHA:35858
Nelson Syndrome	Testicular neoplasm, Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid sinus, Op...	ORPHA:199244
Peripheral Primitive Neuroectodermal Tumor	Abnormal bleeding, Nausea and vomiting, Metrorrhagia, Anorexia, Abdominal distention, Episodic ab...	ORPHA:370348
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hypomagnesemia, M...	ORPHA:699
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Polyhydramnios, Hepatoblastoma, Posterior helix pit, Agenesis of corpus ca...	OMIM:312870
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormal thalamic MRI sign...	ORPHA:485421
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:615491
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Cleft palate, Dandy-Walker malformation	OMIM:607361
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia, Oligohydramnios	ORPHA:3016
Wiedemann-Rautenstrauch Syndrome	Synophrys, Agenesis of corpus callosum, Loss of facial adipose tissue, Anteverted nares, Hypogona...	ORPHA:3455
Mucolipidosis Type Ii	Aortic regurgitation, Respiratory failure requiring assisted ventilation, Epicanthus, Abnormal at...	ORPHA:576
Contractures-Developmental Delay-Pierre Robin Syndrome	Underdeveloped nasal alae, Micrognathia, High, narrow palate, Lop ear, Cleft palate, Abnormal col...	ORPHA:436003
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Hydrocephalus, Polyhydramnios, Ventriculomegaly	OMIM:219730
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy	ORPHA:478029
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Depression, Weight loss, Ina...	OMIM:168605
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Facial palsy, Hypercapnia, Reduced forced v...	OMIM:164310
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hamartoma of tongue, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops ...	OMIM:616546
Peters Plus Syndrome	Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Microcornea, Abnormal pulmonary ve...	ORPHA:709
Rheumatoid Arthritis	Joint swelling, Vasculitis, Rheumatoid arthritis, Weight loss	OMIM:180300
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Abdominal pain, Vulval varicose ...	ORPHA:71273
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Highly arched eyebrow, Micrognathia, High, narrow palate, Obes...	ORPHA:75857
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ...	OMIM:129900
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Recurrent infections, Wei...	ORPHA:704
Isaacs Syndrome	Weight loss	ORPHA:84142
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno...	ORPHA:329971
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Graves Disease, Susceptibility To, 1	Congestive heart failure, Irritability, Weight loss	OMIM:275000
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Dehydration, Weight loss	OMIM:143880
Microphthalmia, Syndromic 3	Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterior pituitary hy...	OMIM:206900
Familial Cerebral Cavernous Malformation	Venous malformation, Retinal cavernous angioma, Episodic vomiting, Cerebral hemorrhage	ORPHA:221061
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Cataract, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Orbit...	OMIM:109400
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent...	OMIM:613960
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Meckel Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Cataract, Aplasia/Hypoplasia of the tongue, Scl...	ORPHA:564
Loeys-Dietz Syndrome 2	Micrognathia, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Bifid uvula, Eosinop...	OMIM:610168
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hypoplasia of eyelid, Optic nerve hypoplasia, Cleft soft palate, Intes...	OMIM:619321
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Hydrocephalus, Periodontitis, Dandy-Walker malformation	ORPHA:722
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Micrognathia, Respiratory insufficiency due to mus...	ORPHA:2020
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem...	ORPHA:90060
Focal Dermal Hypoplasia	Cleft ala nasi, Anteriorly placed anus, Spina bifida occulta, Agenesis of corpus callosum, Iris c...	OMIM:305600
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Edema, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality o...	ORPHA:33577
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea	OMIM:229600
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Anorexia, Pericardial effusion, Iridocyclitis, Dyspnea, Enlarged lacrimal gland...	OMIM:181000
Lysinuric Protein Intolerance	Abnormal bleeding, Glomerulonephritis, Diarrhea, Hepatic failure, Respiratory insufficiency, Feed...	ORPHA:470
Congenital Analbuminemia	Small for gestational age, Edema, Facial edema, Obesity, Pedal edema, Low pulse pressure, Recurre...	ORPHA:86816
Combined Oxidative Phosphorylation Defect Type 7	Facial diplegia, Optic atrophy, Abnormal thalamic MRI signal intensity	ORPHA:254930
Supernumerary Nostril	Choanal atresia, Developmental cataract, Microcornea, Supernumerary naris, Abnormality of ethmoid...	ORPHA:141096
Orofaciodigital Syndrome Vi	Broad nasal tip, Hypothalamic hamartoma, Occipital meningocele, Periventricular nodular heterotop...	OMIM:277170
Hereditary Late-Onset Parkinson Disease	Depression, Weight loss, Chronic constipation, Low frustration tolerance, Dysphagia, Hyposmia, Or...	ORPHA:411602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Cataract, Ventriculomegaly, Respiratory failure	OMIM:616538
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Lymphadenitis, Severe varicella zoster infection, Recurrent pne...	OMIM:618986
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
Doors Syndrome	Thrombocytosis	ORPHA:79500
Cornelia De Lange Syndrome	Micrognathia, Feeding difficulties in infancy, Synophrys, Microcornea, Gastroesophageal reflux, H...	ORPHA:199
Gm2 Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	ORPHA:309246
Yellow Fever	Abnormal bleeding, Shock, Acute pancreatitis, Skin rash, Supraventricular arrhythmia, Nausea, Exc...	ORPHA:99829
Fanconi Anemia, Complementation Group R	Hydrocephalus, Anal atresia	OMIM:617244
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Constipation, Rec...	OMIM:600145
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Progeria-Short Stature-Pigmented Nevi Syndrome	Premature ovarian insufficiency, Abnormal thalamus morphology, Hypergonadotropic hypogonadism	ORPHA:2959
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Raynaud phenomenon, Restrictive ventilatory defect, ...	OMIM:607944
Tsh-Secreting Pituitary Adenoma	Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Decreased ferti...	ORPHA:91347
Sickle Cell Disease	Abdominal pain, Hypoxemia, Hypertension, Recurrent bacterial infections, Stroke, Priapism	OMIM:603903
Acute Adrenal Insufficiency	Nausea and vomiting, Orthostatic hypotension, Decreased female libido, Myocardial infarction, Ano...	ORPHA:95409
Kenny-Caffey Syndrome, Type 1	Carious teeth, Recurrent bacterial infections, Calvarial osteosclerosis	OMIM:244460
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurrent pneumonia, ...	ORPHA:293978
Adrenoleukodystrophy	Neurodegeneration, Primary adrenal insufficiency	OMIM:300100
Erdheim-Chester Disease	Nausea and vomiting, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Abdominal pain, Con...	ORPHA:35687
Full Nf2-Related Schwannomatosis	Facial palsy, Bilateral vestibular schwannoma, Retinal hamartoma, Myelopathy, Posterior subcapsul...	ORPHA:637
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Fusion of the left and right thalami, Wide nasal bridge, Depressed nasa...	OMIM:619306
Peters-Plus Syndrome	Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Protrud...	OMIM:261540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol...	OMIM:263200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Anal stenosis, Rectoperineal fistula, Small for gestational ...	OMIM:107480
Japanese Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Paucity of anterior horn motor neurons, ...	ORPHA:79139
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Entropion, Telangiectasia of th...	ORPHA:910
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea,...	ORPHA:60025
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre...	ORPHA:252183
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov...	ORPHA:1359
Immunodeficiency 47	Tricuspid regurgitation, Sensorineural hearing impairment, Chronic diarrhea, Recurrent infections...	OMIM:300972
Blue Rubber Bleb Nevus	Intestinal bleeding, Rectal prolapse, Volvulus, Intussusception	OMIM:112200
Limb Body Wall Complex	Encephalocele, Corneal opacity, Depressed nasal bridge, Spina bifida, Choanal atresia, Myelomenin...	ORPHA:2369
Addison Disease	Nausea and vomiting, Orthostatic hypotension, Premature ovarian insufficiency, Primary testicular...	ORPHA:85138
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Sepsis, Weight loss, Recur...	ORPHA:764
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Polyhydramnios, Micrognathia, Laryngeal hypoplasia, Anencephaly, Cleft...	OMIM:236680
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Fatal Familial Insomnia	Apnea, Weight loss, Constipation, Abnormal autonomic nervous system physiology, Dysphagia	OMIM:600072
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Sepsis, Abnormal left ventricular function, Vomiting, Protein-lo...	OMIM:619991
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Onychomycosis, Blepharitis	OMIM:615527
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology	ORPHA:88619
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Vipoma	Nausea and vomiting, Anorexia, Malabsorption, Respiratory insufficiency due to muscle weakness, P...	ORPHA:97282
Orofaciodigital Syndrome Type 6	Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Abnormality of neuronal migrat...	ORPHA:2754
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impa...	OMIM:164210
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Pulmonary artery stenosis, Recurrent pneumoni...	OMIM:615067
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea	ORPHA:90003
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal...	ORPHA:160
Nephroblastoma	Abdominal pain, Weight loss, Hypertension, Neoplasm of the liver, Aniridia	ORPHA:654
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology	ORPHA:31
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Hearing imp...	ORPHA:512
Neuroblastoma, Susceptibility To, 1	Abdominal pain, Diarrhea, Horner syndrome, Weight loss, Hypertension, Failure to thrive	OMIM:256700
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Cleft palate, Tetralogy of Fallot	ORPHA:1335
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion	OMIM:619046
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Dehydration, Weight loss,...	ORPHA:35710
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Cho...	ORPHA:100086
Bardet-Biedl Syndrome 1	Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis, Abnormality of the ovary	OMIM:209900
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Feeding difficulties in infancy, Hydrocephalus, Macrotia, Low-set ears, Failure to thrive	OMIM:277400
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Bronchiec...	OMIM:619466
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Optic atrophy, Intestinal bleeding, Gastrointestinal telangiectasia, Oral...	OMIM:612199
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, S...	ORPHA:85408
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials	ORPHA:529808
Gm2-Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	OMIM:272750
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Bruising susceptibility, Corneal scarring, Feeding difficulties, Recurr...	ORPHA:642
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity	ORPHA:444013
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Eyelid coloboma, High palate, Shallow orbits, Midface capillary hem...	OMIM:268300
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Facial edema, Panniculitis	OMIM:618398
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Skin rash, Palpebral edema, Anorexia, Pustule, Myocard...	ORPHA:50918
Tetraamelia Syndrome 1	Cataract, Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Cleft palate, Low-set ears,...	OMIM:273395
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Retrognathia, Bifid uvula	ORPHA:2736
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia	ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Neurodegeneration	OMIM:614298
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis, Calcification of the aorta, Opacification of the corneal stroma	OMIM:231005
Tay-Sachs Disease	Optic atrophy, Abnormal thalamic MRI signal intensity, Ventriculomegaly	ORPHA:845
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ...	OMIM:604292
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Papilledema, Anorexia, Abdominal...	ORPHA:91500
Isolated Posterior Meningocele	Bowel incontinence, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromy...	ORPHA:268810
Goodpasture Syndrome	Anemia, Increased blood urea nitrogen	OMIM:233450
Leigh Syndrome	Agenesis of corpus callosum, Optic atrophy, Abnormal thalamic MRI signal intensity	ORPHA:506
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Neurodegeneration, Hypothyroidism, Cerebral atrophy	OMIM:616878
Malt Lymphoma	Nausea and vomiting, Recurrent respiratory infections, Abnormal nasolacrimal system morphology, A...	ORPHA:52417
Congenital Dyserythropoietic Anemia Type Iii	Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding	ORPHA:98870
Familial Pancreatic Carcinoma	Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ...	ORPHA:1333
Neurodegeneration With Brain Iron Accumulation 3	Neurodegeneration	OMIM:606159
Ectodermal Dysplasia And Immunodeficiency 1	Lymphedema, Severe cytomegalovirus infection, Conical incisor, Recurrent bacterial infections, Mo...	OMIM:300291
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Acne, Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Hypovolemia, Decr...	ORPHA:90794
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Cleft palate	OMIM:612284
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity	ORPHA:157846
Autoimmune Pulmonary Alveolar Proteinosis	Abnormality of the upper respiratory tract, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictiv...	ORPHA:747
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
Thymic Neuroendocrine Tumor	Prominent veins on trunk, Weight loss, Abnormal breath sound, Cough, Abnormal vena cava morphology	ORPHA:97289
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Neurodegeneration, Cerebral atrophy	OMIM:618321
Thoracoabdominal Syndrome	Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great ar...	OMIM:313850
Digeorge Syndrome	Sclerocornea, Micrognathia, High, narrow palate, Gastroesophageal reflux, High palate, Bifid uvul...	OMIM:188400
Otopalatodigital Syndrome, Type Ii	Cataract, Depressed nasal bridge, Posteriorly rotated ears, Spina bifida, Micrognathia, Conductiv...	OMIM:304120
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abdominal pain, Diarrhea, Weight loss, Abnormal testis morphology	ORPHA:54251
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Weight loss	OMIM:188580
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration	OMIM:615919
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration	ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:610217
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia	ORPHA:96253
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight, Weight l...	ORPHA:2298
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Dysphagia	ORPHA:1332
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Abnormal thalamic MRI signal intensity, ...	ORPHA:79138
Pallister-Hall Syndrome	Hypopituitarism, Anteverted nares, Choanal atresia, Secondary growth hormone deficiency, Cryptorc...	ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Micrognathia, Hydrocephalus, Optic atrophy, Opacification of the corneal stroma, Malar ...	OMIM:253280
Noonan Syndrome 1	Male infertility, Juvenile myelomonocytic leukemia, Hypospadias, Cryptorchidism, Hypogonadism, Ch...	OMIM:163950
Oeis Complex	Intestinal malrotation, Cryptorchidism, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, ...	OMIM:258040
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss	OMIM:613239
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum...	ORPHA:424016
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
17Q11 Microdeletion Syndrome	Depressed nasal bridge, Telangiectasia of the skin, Retinal vascular proliferation, Abnormal inte...	ORPHA:97685
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Solitary Fibrous Tumor	Neoplasm of the liver, Constipation, Weight loss	ORPHA:2126
Multiple System Atrophy 1, Susceptibility To	Anhidrosis, Neurodegeneration, Hypohidrosis	OMIM:146500
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti...	ORPHA:79102
Idiopathic Panuveitis	Cataract, Red eye, Posterior synechiae of the anterior chamber, Conjunctival hyperemia, Cystoid m...	ORPHA:280921
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Calcification of the auricular cartilage, Bilateral cryptorchidism, Synophrys, Hydrocep...	ORPHA:3042
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity	ORPHA:83597
Tropical Pancreatitis	Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vomiting, Nausea	ORPHA:103918
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Cryptorchidism, Hydroceph...	ORPHA:322
Aceruloplasminemia	Abnormal thalamic MRI signal intensity	ORPHA:48818
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis	ORPHA:158000
Isolated Permanent Neonatal Diabetes Mellitus	Bilateral ptosis, Hypovolemia, Dehydration, Weight loss, Failure to thrive, Hearing impairment	ORPHA:99885
Gerstmann-Straussler Disease	Emotional lability, Weight loss, Depression	OMIM:137440
Cystinosis, Nephropathic	Male infertility, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Corneal crystals, Dehy...	OMIM:219800
Split Cord Malformation	Bowel incontinence, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, H...	ORPHA:573278
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hydrops fetalis, Weight loss	OMIM:613673
Multiple Myeloma	Pleural effusion, Functional abnormality of the gastrointestinal tract, Weight loss	ORPHA:29073
Klatskin Tumor	Cholangiocarcinoma, Abdominal pain, Weight loss	ORPHA:99978
Alström Syndrome	Respiratory distress, Abnormality of dental color, Hypoplasia of the Leydig cells, Gastroesophage...	ORPHA:64
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Neurodegeneration With Brain Iron Accumulation 1	Cerebral degeneration, Neurodegeneration, Global brain atrophy	OMIM:234200
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting	ORPHA:677
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Primrose Syndrome	Neurodegeneration, Hypothyroidism	OMIM:259050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Trp73

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trp73.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
TP73 Isoform-specific disruption reveals a critical role of TAp73beta in growth suppression and inflammatory response.	Cell death & disease (January 2023)	Trp73^{tm1a(KOMP)Wtsi}	PMC9834251
p73α1, a p73 C-terminal isoform, regulates tumor suppression and the inflammatory response via Notch1.	Proceedings of the National Academy of Sciences of the United States of America (May 2022)	Trp73^{tm1a(KOMP)Wtsi}	PMC9296871
FDXR regulates TP73 tumor suppressor via IRP2 to modulate aging and tumor suppression.	The Journal of pathology (May 2020)	Trp73^{tm1a(KOMP)Wtsi}	PMC7748393
Transcription factor p73 regulates Th1 differentiation.	Nature communications (March 2020)	Trp73^{tm1a(KOMP)Wtsi}	PMC7081339
Mutant p53 antagonizes p63/p73-mediated tumor suppression via Notch1.	Proceedings of the National Academy of Sciences of the United States of America (November 2019)	Trp73^{tm1a(KOMP)Wtsi}	PMC6883818
Transient inhibition of p53 homologs protects ovarian function from two distinct apoptotic pathways triggered by anticancer therapies.	Cell death and differentiation (July 2018)	Trp73^{tm1c(KOMP)Wtsi}	29988075

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MGI Allele	Allele Type	Produced
Trp73^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trp73^em1(IMPC)H	Indel	Mice
Trp73^em2(IMPC)H	Indel	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trp73 MGI:1336991

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E18.5

X-ray

Human diseases caused by Trp73 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data