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Gene: Stag1 MGI:1098658

Gene Summary

Name:

STAG1 cohesin complex component

Synonyms:

Scc3, SA-1

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
enlarged seminal vesicle	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
blind uterus	Stag1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Stag1^em1(IMPC)Mbp	HET	E15.5	0.00
enlarged lymph nodes	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
embryonic growth retardation	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
small kidney	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
increased circulating triglyceride level	Stag1^em1(IMPC)Mbp	HET	Early adult	2.91×10^-05
microphthalmia	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
small spleen	Stag1^em1(IMPC)Mbp	HET	Early adult	0.00
urinary bladder obstruction	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta vasculature	Stag1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal kidney morphology	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
microphthalmia	Stag1^em1(IMPC)Mbp	HET	E15.5	0.00
preweaning lethality, complete penetrance	Stag1^em1(IMPC)Mbp	HOM	Early adult	0.00

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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 Dorso Ventral

40 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Human diseases caused by Stag1 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 Stag1 (2 diseases)
Human diseases predicted to be associated with Stag1 (1852 diseases)

The table below shows human diseases associated to Stag1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Dominant 47		Intrauterine growth retardation, Increased nuchal translucency	OMIM:617635
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome		Cryptorchidism, Scoliosis	ORPHA:502434

The table below shows human diseases predicted to be associated to Stag1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco...	OMIM:232700
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho...	OMIM:615703
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Sparse scalp hair, Skeletal muscle atrophy, Lipodystrophy, Sparse eyelashes, Sparse e...	ORPHA:75496
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Acrogeria	Aplasia/Hypoplasia of the skin, Lipoatrophy, Micrognathia, Skin ulcer, Fine hair, Joint hyperflex...	ORPHA:2500
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Arthrochalasia Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Joint stiffnes...	ORPHA:1899
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Thenar muscle atrop...	OMIM:612350
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Micrognathia, Skin dimple, Thin vermilion border, Short philtrum, Thin skin, Sparse ...	ORPHA:261304
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema, Intrauterine growth retardation	OMIM:616570
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Kerion Celsi	Lymphadenopathy	ORPHA:499
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipody...	ORPHA:2348
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Dental crowding, Lipoatrophy, Increased s...	ORPHA:2457
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
X-Linked Ehlers-Danlos Syndrome	Inguinal hernia, Joint hyperflexibility, Thin skin, Hernia, Umbilical hernia	ORPHA:75497
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint ...	ORPHA:2028
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd...	OMIM:613630
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Abnormality of the dentition, Thick ...	ORPHA:1810
Dermoodontodysplasia	Mandibular prognathia, Sparse scalp hair, Melanocytic nevus, Tooth agenesis, Thin skin, Trichodys...	ORPHA:1660
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Premature graying of hair, Increased intraabdominal fat, Xanthomatosis, Advanced er...	ORPHA:280365
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Dermoodontodysplasia	Hypodontia, Thin skin, Trichodysplasia	OMIM:125640
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia...	ORPHA:1901
Tyrosinemia Type 1	Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Flexion contracture, Thin skin, Thenar muscle atrophy	ORPHA:157965
Lowry-Maclean Syndrome	Delayed eruption of teeth, Preauricular pit, Diaphragmatic eventration, Craniosynostosis, Cleft p...	OMIM:600252
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin	ORPHA:1658
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	OMIM:610717
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Joint stiffness, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Microdontia, Sparse hair, Bifid uvula, Hypospadias, Cle...	OMIM:129400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormality of the dentition, Micrognathia, Abnormal hair morphology, Osteo...	ORPHA:90154
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Premature loss of primary teeth, Widely spaced ...	OMIM:617364
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Nanophthalmos	Microphthalmia	ORPHA:35612
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Aplasia/Hypoplasia o...	ORPHA:79083
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Subcutaneous nodule, Hernia, Macule, Multicystic kidney dysplasi...	ORPHA:2092
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Micrognathia, Carious teeth, Splenomegaly, Low anterior hairline,...	ORPHA:742
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractu...	OMIM:112250
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Short Syndrome	Delayed eruption of teeth, Joint laxity, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathi...	OMIM:269880
Glass Syndrome	Inguinal hernia, Dental crowding, Facial hypotonia, Conical tooth, Micrognathia, Pierre-Robin seq...	OMIM:612313
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Dental crowding, Joint hypermobility, Hypospadias, Congenital diap...	OMIM:617602
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, He...	OMIM:603471
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Platyspondyly, Neoplasm, Hemang...	ORPHA:296
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Familial Cervical Artery Dissection	Facial palsy, Abnormality of connective tissue, Thin skin, Striae distensae	ORPHA:36382
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Oligodontia, Small, conical teeth, Aplasia cutis congenita, Abnormality of the dentition	ORPHA:79499
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Joint laxity, Thin skin, Striae distensae, Atypical scarring of skin	OMIM:225310
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Cryptorchidism, Distal amyotrophy, Umbilical hernia, Thin skin, Narrow mouth, Sp...	OMIM:219150
19Q13.11 Microdeletion Syndrome	Hypospadias, Supernumerary nipple, Aplasia cutis congenita, Cryptorchidism, Fine hair, Wide mouth...	ORPHA:217346
Silver-Russell Syndrome 2	Downturned corners of mouth, Intrauterine growth retardation, Thin skin, Micrognathia	OMIM:618905
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Cholesteryl Ester Storage Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Marshall-Smith Syndrome	Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone mineral density, Increased...	ORPHA:561
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Recon Progeroid Syndrome	Joint laxity, Skeletal muscle atrophy, Prominence of the premaxilla, Dental crowding, Thrombocyto...	OMIM:620370
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Joint laxity, Atrophic scars, Inguinal hernia, Thin skin	OMIM:225320
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Inguinal hernia, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow flexion con...	OMIM:614438
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Lipoatrophy, Recurrent fractures, Micro...	OMIM:601812
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Ehlers-Danlos Syndrome, Periodontal Type, 1	Joint laxity, Alveolar bone loss around teeth, Inguinal hernia, Hiatus hernia, Generalized joint ...	OMIM:130080
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Cheilitis Glandularis	Neoplasm, Squamous cell carcinoma	ORPHA:1221
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrol...	ORPHA:1816
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Geroderma Osteodysplastica	Mandibular prognathia, Recurrent fractures, Osteoporosis, Joint hyperflexibility, Thin skin, Hern...	ORPHA:2078
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal dental en...	ORPHA:2325
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Sparse body ha...	ORPHA:79402
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol...	OMIM:605814
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Palmoplantar Carcinoma, Multiple Self-Healing	Squamous cell carcinoma, Carcinoma, Short neck	OMIM:615225
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Flexion co...	ORPHA:90153
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N...	OMIM:214900
Periventricular Nodular Heterotopia	Hernia, Thin skin, Joint hypermobility	ORPHA:98892
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Gingivitis, Dystrophic fingernails, Papule, Open bite, Skin ulcer, Jo...	ORPHA:2907
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cr...	ORPHA:1812
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Joint stiffness, Carious teeth, Osteoporosis, Increased...	OMIM:136300
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Decreased muscle mass, Lipodystrophy, Cry...	ORPHA:2962
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Downturned corners of mouth, Sk...	ORPHA:79133
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi...	OMIM:618761
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:611225
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Classical-Like Ehlers-Danlos Syndrome Type 1	Joint hyperflexibility, Thin skin, Joint hypermobility, Skeletal muscle atrophy	ORPHA:230839
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Cowden Syndrome 1	Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Hydro...	OMIM:158350
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb...	ORPHA:158061
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro...	ORPHA:2026
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,...	OMIM:604367
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Coffin-Siris Syndrome 3	Joint laxity, Sparse scalp hair, Inguinal hernia, Thick eyebrow, Central diaphragmatic hernia, Cl...	OMIM:614608
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Inguinal hernia, Hy...	OMIM:151050
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo...	OMIM:610755
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythematous plaque, Thin skin, Dermal atrophy, Dystrophic fingernails, Milia, Dystrophic toenail	ORPHA:158673
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv...	ORPHA:2025
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Joint hypermobility, Protruding tongue, Synophrys, Widow's peak, Everted l...	OMIM:617804
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:435651
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Ureteral stenosis, Hypopigmentation of hair, Cryptorchidism, Limitation of joint...	ORPHA:2719
Cardiac-Valvular Ehlers-Danlos Syndrome	Inguinal hernia, Thick eyebrow, Dental crowding, Hypermobility of distal interphalangeal joints, ...	ORPHA:230851
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Sacral dimple, Scapular winging, Camptodactyly of finger, Highly arched ey...	ORPHA:1327
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti...	ORPHA:2222
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis	OMIM:619013
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Osteoporosis, Thin skin, Striae distensae	OMIM:219080
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:743
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H...	OMIM:610644
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ...	ORPHA:238468
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal...	ORPHA:528
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Premature gray...	OMIM:612199
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal sacrum morpholo...	ORPHA:2591
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti...	ORPHA:435660
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Bifid uvula, Long phil...	OMIM:617506
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,...	OMIM:614034
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ...	ORPHA:1979
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Osteoporosis, Nephrolithiasis, Hirsutism, Thin skin, Striae distensae	OMIM:219090
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Thick eyebrow, Cryptorchidism, Thi...	OMIM:614607
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Thin skin, Finger joint h...	OMIM:166200
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Biemond Syndrome Type 2	Microphthalmia, Short stature, Delayed puberty	ORPHA:141333
Stuve-Wiedemann Syndrome 1	Pursed lips, Micrognathia, Carious teeth, Osteoporosis, Pathologic fracture, Elbow flexion contra...	OMIM:601559
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormality of the dentition, Absent eyelashes, Abno...	OMIM:607823
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Flexion contracture, Oste...	OMIM:214150
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co...	OMIM:217150
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Joint...	ORPHA:137834
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal dental ename...	ORPHA:10
Adult Syndrome	Premature loss of permanent teeth, Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary h...	OMIM:103285
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Restrictive Dermopathy 1	Ureteral duplication, Micrognathia, Flexion contracture, Neonatal death, Intrauterine growth reta...	OMIM:275210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon...	OMIM:305100
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Neurofibroma	Neoplasm of the trachea, Kyphoscoliosis, Symmetric spinal nerve root neurofibromas, Paraspinal ne...	ORPHA:252183
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:50944
Meier-Gorlin Syndrome 1	Joint laxity, Absent sternal ossification, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis...	OMIM:224690
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, J...	OMIM:603553
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Torticollis, Multiple joint contractures, Recurrent fractures, Tracheomalacia, Microg...	ORPHA:536467
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Recurrent ...	ORPHA:93160
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Numerous nev...	ORPHA:536471
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Skin plaque, Milia...	ORPHA:89843
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Mmep Syndrome	Microphthalmia	ORPHA:3434
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Micrognathia, Renal cyst, Widely spaced teeth, High palate, Nep...	OMIM:266920
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita, Flexion contracture	OMIM:612138
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Arterial Tortuosity Syndrome	Joint laxity, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hiatus hernia, Flex...	OMIM:208050
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypopl...	ORPHA:2409
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Reduced bone ...	ORPHA:79474
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses...	OMIM:305620
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis, Thin skin, Striae distensae	OMIM:610475
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Acrofacial Dysostosis Syndrome Of Rodriguez	Micrognathia, High palate, Short philtrum, Thin skin, Narrow mouth	OMIM:201170
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Cryptorchidism, Thick lower l...	OMIM:619797
Cofs Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1466
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Osteogenesis Imperfecta, Type Ii	Multiple prenatal fractures, Recurrent fractures, Absent ossification of calvaria, Thin skin	OMIM:166210
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Hypoplasia of the ovary, Decreased proporti...	ORPHA:66628
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ...	ORPHA:915
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ...	OMIM:141300
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis	ORPHA:71267
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Skin erosion, Atrophic scars, Nail dystrophy, Aplasia cutis...	ORPHA:79411
Temple Syndrome	Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Hypercholesterolemia, Decreased testicu...	OMIM:616222
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Den...	OMIM:608612
Liposarcoma	Sarcoma	ORPHA:69078
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Splenomegaly, Oligosacchariduria, Macroglossia, Campt...	OMIM:616354
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Osteoporosis, Thin skin, Striae distensae	OMIM:610489
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Hypoplasia of the ovary, Decreased proporti...	ORPHA:179494
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Joint hyperflexibility, Hip osteoarthritis, Hypodontia	ORPHA:63442
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Vascular Malformation, Primary Intraosseous	Diastasis recti, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia, Umbilical hernia	OMIM:606893
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Scoliosis, ...	OMIM:278760
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia	OMIM:613885
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Citrullinemia Type Ii	Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Abnormal ly...	ORPHA:85450
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit...	ORPHA:978
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,...	ORPHA:920
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis	ORPHA:363400
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, Thick lower l...	OMIM:618342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Reduced bone mineral density	OMIM:619489
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	ORPHA:540
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Ureter...	OMIM:129900
Aplasia Cutis Congenita	Facial palsy, Skin ulcer, Congenital localized absence of skin, Abnormality of bone mineral densi...	ORPHA:1114
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin, Abnormal mandible morphology, Micrognathia	ORPHA:1214
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Microdontia, Advanced e...	OMIM:615873
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Joint stiffness, Subcutaneous nodule, Atypical ...	ORPHA:1366
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Male hypogonadism, Hepatic steatosis	OMIM:615381
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Enamel hypop...	OMIM:226700
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Micropenis, Lymphopenia	OMIM:617575
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis	OMIM:602390
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosinophilia, Hi...	OMIM:147060
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Micrognathia, Synophrys, Osteoporosis, Atyp...	ORPHA:536545
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph...	OMIM:190350
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow...	OMIM:601345
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, General...	OMIM:264090
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Increased hepatocellular ...	ORPHA:71
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Aplasia/Hyp...	ORPHA:1782
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Rhabdoid Tumor	Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia	ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79405
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Micrognathia, Diastema, Carious teeth, Sparse eyebrow, High palate, Thi...	OMIM:244450
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly...	OMIM:619644
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma	OMIM:224750
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Skin tags, Alopecia, Sparse eyelashes, Microgna...	ORPHA:2067
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High...	ORPHA:96170
Emanuel Syndrome	Broad jaw, Preauricular pit, Inguinal hernia, Sacral dimple, Dental crowding, Torticollis, Delaye...	OMIM:609029
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Spermatogenic Failure 81	Acrosomal hypoplasia, Multiple non-erupting secondary teeth, Oligozoospermia	OMIM:620277
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Mandibulofacial Dysostosis With Alopecia	Preauricular pit, Alopecia, Hydroureter, Dental crowding, Sparse eyelashes, Delayed eruption of p...	OMIM:616367
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Xeroderma Pigmentosum	Macule, Craniofacial hyperostosis, Alopecia, Hypermelanotic macule, Abnormality of the dentition,...	ORPHA:910
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Omphalocele, Anemia	OMIM:614450
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Hypermelanotic macule, Crypto...	ORPHA:90322
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Preauricular pit, Dental crowding, Hypopigmen...	OMIM:145420
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Pycnodysostosis	Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima...	ORPHA:763
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Becker Nevus Syndrome	Hamartoma, Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral re...	ORPHA:3455
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Splenomegaly, Leukocytosis, Nail dystrophy, Thin skin, Vesicoureteral re...	OMIM:615895
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Inguinal hernia, Dental crowding, Osteoporosis, Bladder diverticulum, T...	OMIM:225400
Osteoglosphonic Dysplasia	Inguinal hernia, Craniosynostosis, Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupt...	ORPHA:2645
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M...	OMIM:224300
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti...	ORPHA:79100
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	ORPHA:412
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Thin skin, Joint laxity	ORPHA:449291
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi...	ORPHA:97289
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Late-Onset Junctional Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79406
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Rickets, Renal phosphate wasting, Hypophosphatemic ri...	OMIM:193100
Arterial Tortuosity Syndrome	Inguinal hernia, Femoral hernia, Craniosynostosis, Hiatus hernia, Abnormal zygomatic bone morphol...	ORPHA:3342
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Myopathy, Dermal atr...	ORPHA:257
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of the dentition, Abnormality of the gingiva, Osteoarthritis, Limita...	ORPHA:285
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Dorsocervical fat pad, Intra-oral hyperpigme...	ORPHA:96253
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb...	ORPHA:884
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocy...	OMIM:617591
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demi...	OMIM:600785
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Odontochondrodysplasia 1	Delayed eruption of teeth, Osteoporosis, Delayed ossification of carpal bones, Nephronophthisis, ...	OMIM:184260
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Frontal balding, Micrognathia, High, narrow palate, Cryptorchidism, Sy...	ORPHA:96092
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthritis, Anemia	ORPHA:375
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the dentition, Osteoarthritis, ...	ORPHA:1657
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Micrognathia, Flexion contracture, Intrauterine growth retar...	ORPHA:2671
Carpenter Syndrome 1	Omphalocele, Preauricular pit, Sacral dimple, Hydroureter, Sagittal craniosynostosis, Persistence...	OMIM:201000
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of fing...	OMIM:259600
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerar...	ORPHA:1787
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis	OMIM:612463
Combined Immunodeficiency Due To Dock8 Deficiency	Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma	ORPHA:217390
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast...	ORPHA:160
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, Everted lower lip...	OMIM:619736
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Chronic ...	OMIM:300554
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, R...	ORPHA:1452
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters	OMIM:132000
Axial Osteomalacia	Myopathy, Increased bone mineral density, Osteomalacia, Renal cyst	OMIM:109130
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Tooth agenesis, Mic...	ORPHA:633
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Joint stiffness, Carious teeth, Bone cyst, Skin ulcer, Dermal ...	ORPHA:2047
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ...	ORPHA:50814
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Nephrocalcinosis, Flexion contracture	OMIM:617105
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Lipoatrophy, Subcutaneous nodule, Limitation of joint mobility, N...	ORPHA:2833
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Join...	ORPHA:2107
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Do...	ORPHA:261494
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy...	ORPHA:2035
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Cryptorchidism, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal st...	OMIM:301900
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Abnormal c...	ORPHA:79086
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Aicardi Syndrome	Block vertebrae, Hemivertebrae, Teratoma, Carcinoma, Scoliosis, Lipoma, Hepatoblastoma, Metastati...	OMIM:304050
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R...	OMIM:277440
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De...	OMIM:611590
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Exaggerated cupid's bo...	ORPHA:2215
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Osteoporosis, Low anterior hairline, Low posterior hairl...	ORPHA:73272
Loeys-Dietz Syndrome	Camptodactyly of finger, Craniosynostosis, Micrognathia, Orofacial cleft, Atypical scarring of sk...	ORPHA:60030
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Nephroblastoma	OMIM:618272
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Increased urinary sulfite level, Fine hair, Decrease...	OMIM:272300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt...	ORPHA:1807
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Limb hypertonia, Hypodontia, Amelogenesis imperfecta	OMIM:615905
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal ...	ORPHA:96263
Winchester Syndrome	Kyphosis	OMIM:277950
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Reduced bon...	OMIM:619322
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Abnormality of the urethra, Sca...	ORPHA:158684
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, High palate, Neutropenia, Sparse hair, Microdontia, Calcinosis, Abno...	ORPHA:221016
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Cowden Syndrome 6	Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Hydrocele testis...	OMIM:615109
Sandhoff Disease	Kyphosis, Hepatomegaly	ORPHA:796
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss...	OMIM:300009
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly...	ORPHA:99812
Acrootoocular Syndrome	Delayed eruption of teeth, Small hypothenar eminence, Micrognathia, Grayish enamel, High, narrow ...	ORPHA:2980
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Malformation of the ...	OMIM:208540
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Osteomalacia, Recurrent fractures, Camptodactyly of finge...	ORPHA:2176
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Highly arched eyebrow, Abnormality of the dentition, Submucous cleft h...	ORPHA:2712
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Prolonged neonatal jaundice, Cryptorchidism	OMIM:618512
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Glycogen Storage Disease Iii	Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Elevated circulating creatine kinase concentration	OMIM:232400
Werner Syndrome	Sparse scalp hair, Increased bone mineral density, Aplasia/Hypoplasia of the skin, Lipodystrophy,...	ORPHA:902
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Osteolytic defec...	ORPHA:2484
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Left ven...	OMIM:619148
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:228390
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Necrobiosis Lipoidica	Squamous cell carcinoma	ORPHA:542592
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	OMIM:151660
Yellow Nail Syndrome	Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Sarcoma	ORPHA:662
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Hydroureter, Highly arched ey...	OMIM:259775
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic ...	ORPHA:221008
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Gracile Bone Dysplasia	Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellular carcin...	ORPHA:369
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Ectopic kidney, Cryptorchidism, Hirsutism, Gingival overgrowth, Narrow...	OMIM:235510
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Kyphosis, Short neck	OMIM:618393
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Subcutaneous nodule, Gingivitis,...	ORPHA:286
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,...	OMIM:617237
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Roifman Syndrome	Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, General...	OMIM:264700
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Absent eyebrow, Absent eyelashes, Short upper lip, Wide mouth, Hypop...	OMIM:200110
Odontochondrodysplasia	Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Decreased calvarial ossificat...	OMIM:614592
Scrub Typhus	Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Nail dys...	OMIM:300887
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Thrombocytopenia, Hype...	OMIM:617053
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96264
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph...	OMIM:304790
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, High, narrow palate, Synophrys, Re...	OMIM:122470
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:290
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h...	OMIM:606721
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca...	OMIM:613388
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Brachydactyly, Type B1	Vertebral fusion, Delayed eruption of permanent teeth, Camptodactyly, Micropenis, Joint contractu...	OMIM:113000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sparse scalp hair, Proteinuria, Sparse eyelashes, Sagittal craniosynostosis, Microgn...	OMIM:616901
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Ulerythema Ophryogenesis	Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow	ORPHA:3406
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Inguinal hernia, Aplasia/Hypoplasia of the skin, Ca...	ORPHA:2990
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Thin upper lip vermilion, Preauricular pit, Scapular winging, Dental crowding, Shor...	OMIM:170390
Ataxia-Telangiectasia	Skeletal muscle atrophy, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Lymphopenia, P...	ORPHA:100
Fanconi Anemia, Complementation Group C	Hypopigmented macule, Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Flexion con...	OMIM:227645
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Crypt...	ORPHA:2063
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Testicular neoplasm, Abnormal zygomatic bone morphology, Fibrous ...	ORPHA:249
Codas Syndrome	Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho...	ORPHA:1458
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Smith-Magenis Syndrome	Precocious puberty, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hepatomegaly, Chronic active hepatitis, Hypergonadotropi...	OMIM:203800
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature	OMIM:606744
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Micr...	ORPHA:85201
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cryptorchidism, Kyphosis, Scoliosis, Short neck	OMIM:611890
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,...	OMIM:610253
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	OMIM:300863
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Alopecia totalis, Aplasia cutis congenita, Neonatal death, Skin erosion, Alopecia un...	OMIM:609638
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Micrognathia, High, narr...	ORPHA:2780
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized am...	ORPHA:289157
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ...	OMIM:235200
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, Hypogo...	ORPHA:168569
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Diastrophic Dysplasia	Kyphosis, Visceral angiomatosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis...	ORPHA:628
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi...	OMIM:601957
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature, Edema	ORPHA:2505
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Thick hair, Abnormal...	ORPHA:769
Microphthalmia, Lenz Type	Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Camptodactyly of finger, Hypo...	ORPHA:568
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc...	OMIM:241530
Pachyonychia Congenita	Natal tooth, Alopecia, Epidermoid cyst, Angular cheilitis, Eruptive vellus hair cyst, Cutaneous c...	ORPHA:2309
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Renal phosphate wasting, Renal ...	OMIM:307800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Decreased testicular size	ORPHA:1875
Legionnaires Disease	Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hematuria, ...	ORPHA:549
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal hair pattern, Abn...	ORPHA:2315
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Cryptorch...	ORPHA:950
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly	OMIM:618541
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ...	OMIM:618825
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Dental crowding, Carious teeth, Absent paranasal ...	OMIM:269300
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Nephropathy, Myopathy, Abnormal dental enamel morphology	ORPHA:2238
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Brittle hair, Cari...	OMIM:607812
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Renal Tubular Acidosis Iii	Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis	OMIM:267200
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Absent eyebrow, Alopecia, Sparse eyelashes, Spa...	OMIM:268400
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Osteomalacia, Nephrolithiasis, Hypercalciuria, Reduced bone mineral density, H...	ORPHA:157215
Dent Disease	Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri...	ORPHA:1652
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy...	ORPHA:2686
Char Syndrome	Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Symphalangism of the ...	ORPHA:46627
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Hirsutism, Gingival overgrow...	ORPHA:313855
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Bilateral cryptorchidism, Neutropenia, Eclabion, Intrau...	OMIM:616395
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma	OMIM:602540
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma...	OMIM:101800
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Hypophosphatemia, Abnormal hepatic glycogen storage, Hepatoce...	ORPHA:2088
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co...	ORPHA:470
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia...	ORPHA:167
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Sparse eyelashes, Micrognathia, Hypoplasia of the max...	OMIM:257850
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Thi...	OMIM:309900
3M Syndrome	Delayed eruption of teeth, Scapular winging, Hypospadias, Abnormal dental enamel morphology, Join...	ORPHA:2616
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hepatomegaly	OMIM:618234
Kabuki Syndrome 2	Joint laxity, Natal tooth, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusio...	OMIM:300867
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Eiken Syndrome	Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio...	OMIM:600002
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Kyphosis, Cavernous hemangioma, Breast carci...	ORPHA:201
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios	ORPHA:2189
Warburg-Cinotti Syndrome	Dental crowding, Ankle flexion contracture, Elbow flexion contracture, Gingival overgrowth, Osteo...	OMIM:618175
Bresek Syndrome	Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Epispadias, Elbow ankylosis, Bifid uvula, Abnormal pe...	ORPHA:2658
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Rickets, Hypercalciuria	OMIM:602722
Hallermann-Streiff Syndrome	Natal tooth, Alopecia, Sparse eyelashes, Recurrent fractures, Micrognathia, Abnormality of the de...	ORPHA:2108
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Kosaki Overgrowth Syndrome	Thin upper lip vermilion, Thin skin, Xanthelasma	OMIM:616592
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Polycys...	OMIM:608594
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Ascites	ORPHA:36412
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Osteomalacia, Monostotic fibrou...	ORPHA:562
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Osteoporosis, Subcutaneous ossification, Low urinary cyclic AMP respon...	OMIM:103580
Werner Syndrome	Hypertriglyceridemia, Hypogonadism, Elevated hemoglobin A1c	OMIM:277700
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Scoliosis	ORPHA:1548
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Cowden Syndrome 5	Kyphosis, Breast carcinoma, Hamartomatous polyposis, Hydrocele testis, Meningioma, Scoliosis, Thy...	OMIM:615108
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Sparse eye...	OMIM:234100
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Abnormal abdomen morp...	OMIM:216360
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic...	ORPHA:275761
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating...	OMIM:615980
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal dental mo...	ORPHA:192
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Sacral dimple,...	OMIM:247200
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Cryp...	OMIM:616300
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Cockayne Syndrome Type 1	Mandibular prognathia, Renal insufficiency, Foot joint contracture, Proteinuria, Delayed eruption...	ORPHA:90321
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal hair quantity, Hydroureter, Hypospadias, Abnormal oral mucosa...	ORPHA:289
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Cardiomegaly	OMIM:252920
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Gapo Syndrome	Alopecia, Epidermoid cyst, Sparse eyelashes, Facial palsy, Micrognathia, Sparse eyebrow, High, na...	OMIM:230740
Trisomy 13	Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt...	ORPHA:3378
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	OMIM:613327
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, La...	OMIM:269700
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Nephrolithiasis, Nep...	OMIM:179800
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Renal hypoplasia, High palate, Hypodontia, Sparse hair, Vesicou...	OMIM:616854
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnormal granulocyte morphology, Abno...	ORPHA:98907
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Monosomy 18P	Microphthalmia, Short stature, Lymphedema	ORPHA:1598
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic hernia, Cryptorchid...	ORPHA:1647
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial palsy, Delayed eruption of permanent teeth, Broad alveolar ridges, ...	OMIM:218400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, A...	ORPHA:289176
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis	OMIM:618237
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Dubowitz Syndrome	Abnormality of neutrophils, Micrognathia, Low anterior hairline, High palate, Hypospadias, Crypto...	ORPHA:235
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica...	ORPHA:2563
Weismann-Netter Syndrome	Calvarial hyperostosis, Delayed eruption of permanent teeth	OMIM:112350
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Myelodysplasia, Kyphosis, Cryptorchidism, Scoliosis, Leukemia	OMIM:619951
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Dental malocclusion, Thick vermilion border, High pa...	OMIM:612921
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis, Low urinary cyclic AMP response to PT...	OMIM:612462
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	OMIM:278750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hepatocellular adenoma, ...	ORPHA:79259
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Recurrent aphthous st...	OMIM:212750
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas...	ORPHA:1655
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen...	OMIM:610377
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios	OMIM:619053
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Bifid uvula, Multicystic...	OMIM:300373
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Long penis, High palate, Advanced eruption of teeth, Hypertrichosis	OMIM:262190
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Familial Adenomatous Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Abnormal dental morphology, Abnormal dental enamel morpholog...	ORPHA:464
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Cystinosis	Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Myopathy, Aminoaciduria, Ne...	ORPHA:213
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb...	ORPHA:567983
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos...	OMIM:101200
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micro...	OMIM:133540
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Thick eyebrow, Joint hypermobility, Carious teeth, Widow's peak, Widel...	OMIM:619229
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Kyphosis, Scoliosis, Short neck	ORPHA:178148
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyphosis, Medu...	ORPHA:77301
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Short philtrum, ...	OMIM:617337
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Ho...	OMIM:305000
Cole-Carpenter Syndrome	Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ...	ORPHA:2050
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Short philtrum, Widely spaced teeth, Sparse hair, Highly arched eyebrow, Cleft lip, Acute lymphob...	OMIM:280000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Nail dystrophy, Enamel hypoplasia, Hypodontia	OMIM:616029
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen...	ORPHA:3214
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Hypospadias, Precocious puberty in females, ...	ORPHA:90793
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, High palat...	OMIM:211380
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Micropenis, Joint la...	OMIM:268310
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Sparse scalp hair, Dorsocervical fat pad, Intra-oral hyperpigme...	ORPHA:99889
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:352490
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Congenital Muscular Dystrophy, Ullrich Type	Kyphosis, Spinal rigidity, Scoliosis, Short neck	ORPHA:75840
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Recessive Dystrophic Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79409
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Long eyelashes, Ankle flexion contracture, Micrognathia	OMIM:617802
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia...	ORPHA:93552
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Thrombocytopenia, Spl...	OMIM:301072
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal p...	ORPHA:449432
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia...	ORPHA:520
Poikiloderma With Neutropenia	Joint laxity, Micrognathia, Carious teeth, Joint stiffness, Sparse eyebrow, Splenomegaly, Neutrop...	OMIM:604173
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Preauricular pit, Hypospadias, Craniosynostosis, Micro...	ORPHA:2745
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Otopalatodigital Syndrome, Type I	Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Capitate-hamate fusion, Limited kn...	OMIM:311300
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Dubowitz Syndrome	Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Sacral dimple, Hypospadias, Aplast...	OMIM:223370
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism	ORPHA:2617
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin	ORPHA:1643
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Hematuria...	ORPHA:77259
Hennekam Syndrome	Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo...	ORPHA:2136
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism	OMIM:618484
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Lead Poisoning	Delayed eruption of teeth, Cranial hyperostosis, Chronic kidney disease, Imbalanced hemoglobin sy...	ORPHA:330015
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Long philtrum	ORPHA:263463
Acrocraniofacial Dysostosis	Preauricular pit, Craniosynostosis, Micrognathia, Cleft palate, Short philtrum, Advanced eruption...	ORPHA:949
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt...	OMIM:300755
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Hepatitis, Lymphadenopathy, Tubulointerstitial nephritis, Neph...	ORPHA:139402
Desmosterolosis	Increased bone mineral density, Aplasia/Hypoplasia of the skin, Micrognathia, Splenomegaly, Submu...	ORPHA:35107
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Osteoporosis, Polyuria, Rickets	OMIM:560000
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam...	ORPHA:1031
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Premature graying of ha...	OMIM:127550
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Highly arched eyebrow, Thick vermilion border, Ever...	OMIM:615866
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut...	ORPHA:293173
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Scoliosis	OMIM:615834
Mcdonough Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:2471
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Alopecia, Scarring, Cran...	ORPHA:79396
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Inguinal hernia, Hypospadias, Campt...	OMIM:166250
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Incr...	ORPHA:94089
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature	ORPHA:3191
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Vesicouret...	ORPHA:261652
Familial Mediterranean Fever	Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephrotic sy...	ORPHA:342
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Rickets, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria	OMIM:615605
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Renal insufficiency, Reduced subcutaneous adipose tissue,...	OMIM:216400
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Jaundice...	ORPHA:2137
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Dry hair, Epidermoid cyst, Angular cheilitis, Sparse eyebrow, Nai...	OMIM:167210
Recurrent Respiratory Papillomatosis	Squamous cell carcinoma	ORPHA:60032
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Hepatic steatosis, Elevated hemoglobin A1c	OMIM:617253
Fanconi Anemia, Complementation Group E	Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle,...	OMIM:600901
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip...	ORPHA:1071
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Sparse scalp hair, Hypospadias...	ORPHA:1465
Sotos Syndrome	Mandibular prognathia, Joint laxity, Sparse eyebrow, High, narrow palate, Cryptorchidism, Narrow ...	OMIM:117550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced te...	OMIM:617865
Kindler Epidermolysis Bullosa	Urethral stricture, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Premature ...	ORPHA:2908
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Extramedullary hematopoiesis, Rickets, Renal cyst	ORPHA:79303
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Increased nuchal translucency, Oligohydramnios	OMIM:618494
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Beare-Stevenson Cutis Gyrata Syndrome	Skin tags, Natal tooth, Preauricular pit, Hypospadias, Craniosynostosis, Gingival overgrowth, Nar...	OMIM:123790
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Eec Syndrome	Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal dental enamel morphology, Slow-growing hair...	ORPHA:1896
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Scheie Syndrome	Splenomegaly, Mucopolysacchariduria, Hepatomegaly	ORPHA:93474
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Ureteral stenosis, Micrognathia...	OMIM:309350
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Thick hair, H...	ORPHA:198
Neurofibromatosis Type 1	Astrocytoma, Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Lisch nodu...	ORPHA:636
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car...	ORPHA:3238
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610125
Lichen Planopilaris	Alopecia, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Neoplasm of the oral cavity, Pa...	ORPHA:525
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Webbed penis, Micropenis, Fused thoracic vertebra...	ORPHA:97360
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Female external genitalia in individual with ...	ORPHA:168558
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Rena...	ORPHA:18
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Scarring, Supernumerary nipple, Conical tooth, Eosinophilia,...	OMIM:308300
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu...	ORPHA:1811
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria	ORPHA:839
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Thrombocytopenia, Subcutaneous nodule, Gingival overgrowth, Reticulocy...	ORPHA:508542
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Fanconi Anemia, Complementation Group A	Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle,...	OMIM:227650
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Kyphosis, Decreased testicular size, Hyperlordosis	ORPHA:3085
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Moderate albuminuria, Hydronephrosis, Delayed eruption of permanent teeth, Periodonti...	OMIM:619269
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma	ORPHA:44890
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Female external genitalia in individual with ...	ORPHA:289548
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Persistence of primary t...	ORPHA:2785
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg...	ORPHA:556
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Displacement of the urethral meatus...	ORPHA:1556
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:606612
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia, Polyhydramnios	OMIM:616920
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Sparse hair, Intraut...	ORPHA:1662
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Ric...	OMIM:227810
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Dysostosis, Stanescu Type	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Exostoses	ORPHA:1798
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia	OMIM:612918
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Alpha-Mannosidosis	Hepatomegaly, Kyphosis, Scoliosis, Short neck	ORPHA:61
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Absent eyelashes, Cleft palate, Congenital alopecia totalis, Camptod...	ORPHA:158687
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Fanconi Anemia, Complementation Group I	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Wilson Disease	Hemolytic anemia, Hyperphosphaturia, Proteinuria, Osteomalacia, Thrombocytopenia, Osteoarthritis,...	OMIM:277900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Flexion contracture, Iron deficiency anemia, Urinary bladder sphi...	ORPHA:79408
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature	OMIM:147250
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho...	OMIM:611881
Camurati-Engelmann Disease	Delayed eruption of teeth, Skeletal muscle atrophy, Facial palsy, Carious teeth, Splenomegaly, Ab...	ORPHA:1328
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Nevus, Carious teeth, Skin erosion, Flexion contracture, Atypical scarri...	ORPHA:89842
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Decreased mitochondrial number, Spinal rigidity	ORPHA:352447
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Decre...	ORPHA:666
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp...	OMIM:300280
Barber-Say Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Wide mouth, Sparse or absent eyelashes...	ORPHA:1231
Sialidosis Type 2	Kyphosis, Hepatomegaly	ORPHA:87876
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Camptodactyly of finger, Cryptorchidism, Su...	OMIM:309000
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:614409
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thr...	ORPHA:1855
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury, Anemia	ORPHA:29073
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s...	OMIM:601186
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Persistence of primary teeth, Persistence of hemoglobin F, Umbili...	OMIM:619769
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis	ORPHA:536516
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Inguinal hernia, Scapular winging, Block vertebrae, Tarsal synostosis, Preauric...	OMIM:272460
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s...	OMIM:119600
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Short philtrum, High pa...	OMIM:135900
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Focal Dermal Hypoplasia	Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Oligodontia, Sparse hair, Jo...	OMIM:305600
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce...	OMIM:253000
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi...	ORPHA:30391
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Hydroureter, Alopecia, Osteomalacia, Micrognathia, Cry...	ORPHA:2636
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation	ORPHA:3412
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Q Fever	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Hem...	ORPHA:781
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth...	ORPHA:2769
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Splenomegaly, R...	OMIM:269860
Igg4-Related Kidney Disease	Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph...	ORPHA:449395
Curry-Jones Syndrome	Generalized hirsutism, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Craniosynostosis	ORPHA:1553
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Osteopenia, Normocytic anemia, Sinusitis, Osteomyelitis, Aplastic anem...	ORPHA:811
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Osteoma cutis, Low urinary...	ORPHA:79444
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Generalized hypopigmentation ...	ORPHA:3322
Trisomy 9P	Sacral dimple, Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth	ORPHA:236
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Alg1-Cdg	Kyphosis, Decreased liver function, Scoliosis	ORPHA:79327
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Decreased muscle mass, Lipodystrophy, Car...	ORPHA:2834
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Kyphosis, Uterine leiomyoma, Platyspondyly, Exostoses	OMIM:616482
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Decreased testicular size, Cryptorchidism	OMIM:615433
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Medullary thyroid carcinoma, Ganglioneuroma	OMIM:162300
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Galloway-Mowat Syndrome 3	Short stature, Edema, Oligohydramnios, Microphthalmia, Intrauterine growth retardation	OMIM:617729
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, De...	OMIM:619503
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Glycerol Kinase Deficiency	Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Squamous cell carcinoma	OMIM:618373
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Rickets, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Lymphangioleiomyomatosis	Abnormal urinary color, Abnormality of the lymphatic system, Abnormal morphology of female intern...	ORPHA:538
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Mosaic Trisomy 9	Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O...	ORPHA:99776
Fanconi Anemia, Complementation Group P	Cryptorchidism, Squamous cell carcinoma	OMIM:613951
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Short stature	ORPHA:369891
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia	OMIM:302960
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Scoliosis	ORPHA:464282
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Osteoma cutis, Reduced bon...	ORPHA:79443
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele, Growth delay	OMIM:614424
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:251230
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Osteopenia, Inguinal hernia, Scapular winging, Join...	OMIM:278250
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:613451
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Pallister-Hall Syndrome	Natal tooth, Hydroureter, Distal urethral duplication, Cleft upper lip, Ectopic kidney, Cryptorch...	OMIM:146510
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Advanced eruption of teeth, M...	ORPHA:818
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas...	ORPHA:199276
Monosomy 22	Short neck, Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, Meningioma, Sarcoma	ORPHA:96123
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Ruvalcaba Syndrome	Kyphosis, Scoliosis, Cryptorchidism	OMIM:180870
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Abnormality of the dentition, Micrognathia, Synophrys, Eru...	ORPHA:476126
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De...	OMIM:620099
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Scoliosis	OMIM:300602
Pearson Syndrome	Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,...	ORPHA:699
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation	OMIM:206920
Papillon-Lefèvre Syndrome	Melanoma, Liver abscess, Neoplasm of the skin, Squamous cell carcinoma	ORPHA:678
Marden-Walker Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:248700
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis	ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
3C Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Facial hemangioma	ORPHA:7
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Renal cyst, Short philtrum, High palate, Micropenis, My...	ORPHA:798
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Inguinal hernia, Joint stiffness, Carious teeth, Splenomegaly, Flexion...	OMIM:253200
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Micro Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:2510
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Fanconi Anemia, Complementation Group F	Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation	OMIM:603467
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre...	OMIM:276700
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Scoliosis	ORPHA:2181
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Kyphosis, Hepatosplenomegaly, Short neck	OMIM:608776
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis	OMIM:108145
Temtamy Syndrome	Microphthalmia	OMIM:218340
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Abnormal circulating creatine kinase co...	ORPHA:98908
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Pitt-Hopkins Syndrome	Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hypopigmented skin patches, Micropenis, Wide...	ORPHA:2896
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Fanconi Anemia, Complementation Group D2	Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle,...	OMIM:227646
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Poems Syndrome	Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visceromegaly, Increased ci...	ORPHA:2905
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Cryptorchidism, Abnormal form of t...	ORPHA:2311
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Intraute...	ORPHA:93325
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep...	OMIM:615688
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Oral ulcer, E...	ORPHA:79480
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Inguinal hernia, Sparse scalp hair, Urinary incontinence,...	ORPHA:404448
Adams-Oliver Syndrome	Encephalocele, Microphthalmia, Ascites	ORPHA:974
Nodular Non-Suppurative Panniculitis	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Panniculitis, Splenomegaly	ORPHA:33577
Meckel Syndrome 14	Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios	OMIM:619879
Classical-Like Ehlers-Danlos Syndrome Type 2	Cryptorchidism, Hypertriglyceridemia	ORPHA:536532
Moebius Syndrome	Microphthalmia	OMIM:157900
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Pituitary adenoma	OMIM:300942
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in...	ORPHA:37042
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Preauricular pit, Highly arched eyebrow, Ectopic kidney, Cryptorchidism, Widow's pea...	ORPHA:1519
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar...	ORPHA:2751
Distal Triplication 15Q	Hydrocele testis, Kyphosis, Nephroblastoma, Scoliosis	ORPHA:314588
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis, Decreased testicular size, Cryptorchidism	OMIM:300354
Schaaf-Yang Syndrome	Kyphosis, Scoliosis, Cryptorchidism	OMIM:615547
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Meckel Syndrome, Type 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Accessory spleen, Camptodactyly of finger, Cl...	OMIM:249000
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Thick eyebrow, Hypospadias, Persistence of primary teeth, Cryptorchidi...	OMIM:300166
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor...	ORPHA:97685
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte...	ORPHA:87
Adams-Oliver Syndrome 5	Inguinal hernia, Aplasia cutis congenita, Hypersplenism, Splenomegaly, Cutis marmorata telangiect...	OMIM:616028
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Polyhydramnios	ORPHA:3301
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Erosion of oral mucosa, Multicystic kidney dysplasia, Hydroureter, Abnormal o...	ORPHA:79404
Wieacker-Wolff Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:314580
Stickler Syndrome	Skeletal muscle atrophy, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxil...	ORPHA:828
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki...	OMIM:249100
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Abnormal dental ...	ORPHA:191
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Synophrys, Low anterior hairl...	ORPHA:199
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Preauricular pit, Absent nipple, Facial pa...	OMIM:620186
Srd5A3-Cdg	Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology	ORPHA:324737
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Low posterior hairline, ...	OMIM:617925
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:607155
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo...	OMIM:607944
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Kyphosis, Short neck	ORPHA:3409
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Absence of subcutaneous fat, Corneal scarring, Dermal atrophy, ...	OMIM:610965
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Huriez Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:384
Cystinosis, Nephropathic	Skeletal muscle atrophy, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypopigme...	OMIM:219800
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar...	ORPHA:3380
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly ossified vertebrae, Scle...	ORPHA:3003
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis	ORPHA:171436
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Dermal atrophy, ...	ORPHA:69735
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Alagille Syndrome 1	Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ...	OMIM:118450
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorchidism, Mi...	OMIM:612651
Codas Syndrome	Delayed eruption of teeth, Omphalocele, Cryptorchidism, Generalized joint laxity, Delayed ossific...	OMIM:600373
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Kyphosis, Short neck	ORPHA:3082
Brucellosis	Hepatomegaly, Liver abscess, Glomerulonephritis, Hypersplenism, Splenomegaly, Leukocytosis, Throm...	ORPHA:1304
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Ramon Syndrome	Kyphosis, Gingival fibromatosis, Scoliosis	OMIM:266270
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis...	OMIM:253010
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Galloway-Mowat Syndrome 1	Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar...	OMIM:251300
Sialidosis Type 1	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Hypocalcemia, Aplasia of the uterus, Vaginal atresia, Hypocalce...	ORPHA:2237
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth...	ORPHA:667
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism	ORPHA:3121
Coccidioidomycosis	Renal insufficiency, Abnormal sperm morphology, Eosinophilia, Abnormality of the spleen, Mediasti...	ORPHA:228123
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
Charge Syndrome	Delayed eruption of teeth, Facial palsy, Highly arched eyebrow, Cleft upper lip, Abnormal soft pa...	ORPHA:138
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Pancytopenia, Rickets, Reduced bone mineral density, A...	OMIM:613658
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis	OMIM:618443
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia...	OMIM:609049
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Papillorenal Syndrome	Microphthalmia, Short stature, Edema	OMIM:120330
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature	OMIM:612530
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Osteopenia, Sacral dimple, Aplasia cutis congenita, ...	OMIM:300966
15Q24 Microdeletion Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:94065
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
19P13.12 Microdeletion Syndrome	Short neck, Cryptorchidism, Kyphosis, Scoliosis, Hepatic steatosis	ORPHA:254346
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:364577
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Wieacker-Wolff Syndrome, Female-Restricted	Kyphosis, Scoliosis, Short neck	OMIM:301041
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon...	ORPHA:2839
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Hydronephrosis, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Parotitis, Eosinophilia, Portal hypertension...	ORPHA:797
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Hypospadias, Carious teeth, Cryptorchidism, Supernume...	ORPHA:353281
Poland Syndrome	Short neck, Retinal hamartoma, Kyphosis, Cryptorchidism, Hemivertebrae, Acute leukemia, Vertebral...	ORPHA:2911
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2250
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Hematuria, Nail dystroph...	ORPHA:79403
Mosaic Variegated Aneuploidy Syndrome	Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Microphthalmia, Ascit...	ORPHA:1052
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Renal phosphate wasting, Rickets	OMIM:612089
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral...	OMIM:230500
Refsum Disease	Microphthalmia	ORPHA:773
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:2714
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Decreased hip abduction, Limited hip extension, Camptodactyly of finge...	OMIM:143095
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoi...	OMIM:253220
Lyme Disease	Arthritis, Skin nodule, Dermal atrophy	ORPHA:91546
Doors Syndrome	Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, Nephrocalcinosis, Wid...	ORPHA:79500
Branchiooculofacial Syndrome	Micrognathia, Renal cyst, Postauricular pit, Premature graying of hair, Sparse hair, Preauricular...	OMIM:113620
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Glabellar hemangioma	OMIM:618223
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement	OMIM:620233
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:193
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios	ORPHA:2166
Marinesco-Sjogren Syndrome	Kyphosis, Scoliosis	OMIM:248800
Congenital Myopathy 22A, Classic	Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity	OMIM:620351
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion	ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis	ORPHA:582
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala...	ORPHA:50945
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Joint laxity, Hypospadias, Hig...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Joint laxity, Hypospadias, Hig...	ORPHA:353277
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Sacral dimple, Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal d...	ORPHA:2556
Primary Fanconi Renotubular Syndrome	Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Gm1 Gangliosidosis	Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Platyspondyly...	ORPHA:354
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Scoliosis, Spinal rigidity	OMIM:254090
Mosaic Trisomy 1	Microphthalmia, Increased nuchal translucency, Polyhydramnios	ORPHA:1692
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli...	ORPHA:2789
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Hyponatremia, Decreased circulating cortisol level, Abnormal external genital...	ORPHA:90794
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:364028
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Elevated uri...	ORPHA:653
Martsolf Syndrome 1	Microphthalmia, Short stature	OMIM:212720
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Short nail, Deep philtrum, Uraciluria, High palate, Long eyelashes, Op...	ORPHA:1675
Arthrogryposis, Distal, Type 4	Kyphosis, Lumbar scoliosis, Scoliosis	OMIM:609128
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland...	ORPHA:79078
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Dermatomyositis	Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Skin ulce...	ORPHA:221
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorc...	OMIM:265000
Trisomy 20P	Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebral segmentati...	ORPHA:261318
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Proteinuria, Parotitis, Orchitis, S...	ORPHA:99827
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hemoglobin A1c, Hepatomegaly, Hypertriglyceridemia, Macrovesicular hepatic steatosis	OMIM:619127
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Nephrolithiasis, Delayed eruption of permanent...	ORPHA:521445
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail	OMIM:601319
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Scoliosis	OMIM:617061
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Short stature	OMIM:115470
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath...	OMIM:181000
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Kindler Syndrome	Phimosis, Carious teeth, Urethral stenosis, Spotty hypopigmentation, Gingivitis, Periodontitis, D...	OMIM:173650
1Q21.1 Microdeletion Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:250989
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Rhizomelia	OMIM:615877
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis	OMIM:617190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Short stature	OMIM:601675
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp...	ORPHA:3260
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Scoliosis	OMIM:609541
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Hypoplasia of the uterus, Abnorma...	ORPHA:3464
Genitopalatocardiac Syndrome	Kyphosis, Abnormality of the gallbladder, Scoliosis, Cryptorchidism	ORPHA:2075
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Spar...	OMIM:181270
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit...	ORPHA:449563
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Glomerulonephritis, ...	ORPHA:289390
Harrod Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:2115
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Koolen-De Vries Syndrome	Vertebral fusion, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Cousin Syndrome	Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia	OMIM:260660
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Hig...	OMIM:182250
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc...	OMIM:615846
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Joint laxity, Hypospadias, Delayed epiphyseal os...	ORPHA:93357
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Neu-Laxova Syndrome 1	Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm...	OMIM:256520
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s...	ORPHA:800
Marshall-Smith Syndrome	Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odontoid process,...	OMIM:602535
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Abnormality of the dentition, Pyelonephritis, Du...	ORPHA:2036
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Delayed eruption of primary teeth, Urinary retention, Widely spaced teeth, Neutr...	OMIM:617799
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Hurler-Scheie Syndrome	Kyphosis, Scoliosis, Hepatomegaly	OMIM:607015
Fryns Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2059
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp...	OMIM:614188
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Biconcave vertebral bodies	OMIM:130720
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Renal Fanconi s...	ORPHA:411629
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Fucosidosis	Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar vertebrae, Hepatomegaly	ORPHA:349
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis	ORPHA:268249
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Meckel Syndrome	Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy...	ORPHA:564
Glycogen Storage Disease Ia	Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular carcinoma, Pancreatitis	OMIM:232200
Hurler Syndrome	Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Hepatosplenomegaly, Bicon...	OMIM:607014
Jaberi-Elahi Syndrome	Kyphosis, Scoliosis	OMIM:617988
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Blau Syndrome	Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Abnormality of the liver, Nephropa...	ORPHA:90340
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Severe short stature, Rhizomelia	ORPHA:85167
Behçet Disease	Renal insufficiency, Orchitis, Splenomegaly, Lymphadenopathy, Pancreatitis	ORPHA:117
Wolf-Hirschhorn Syndrome	Sacral dimple, Kyphosis, Cryptorchidism, Abnormality of the gallbladder, Abnormal form of the ver...	ORPHA:280
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre...	ORPHA:189427
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Cryptorchidism, Kyphosis, Capillary hemangioma, Scoliosis	OMIM:619194
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
X-Linked Intellectual Disability, Cabezas Type	Kyphosis, Decreased testicular size, Scoliosis, Short neck	ORPHA:85293
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Fanconi Anemia	Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Umbilical hernia, Micr...	ORPHA:84
Fanconi Anemia, Complementation Group L	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:614083
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R...	OMIM:601803
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Scoliosis, Spondylolisthesis	OMIM:610443
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Scoliosis	ORPHA:88628
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Intrauterine growth retardation	OMIM:147791
Acute Radiation Syndrome	Skin ulcer, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Sotos Syndrome	Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Joint l...	ORPHA:821
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Linear Skin Defects With Multiple Congenital Anomalies 3	Asymmetric, linear skin defects, Delayed eruption of primary teeth	OMIM:300952
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Platyspondyly, Sclerotic vertebral body	OMIM:618476
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorchidism, Melanoma, Scoliosis,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorchidism, Melanoma, Scoliosis,...	ORPHA:363958
Mucopolysaccharidosis Type 6	Kyphosis, Ovoid vertebral bodies, Short neck	ORPHA:583
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature, Short stature	OMIM:127000
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios	ORPHA:3103
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Aplasia of the uterus	ORPHA:3320
Occipital Horn Syndrome	Pelvic bone exostoses, Kyphosis, Bladder carcinoma, Platyspondyly, Exostoses	OMIM:304150
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio...	ORPHA:261537
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Epispadias, Abnormality o...	ORPHA:3339
Floating-Harbor Syndrome	Hypospadias, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Cryptorchidi...	ORPHA:2044
Kawasaki Disease	Proteinuria, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Sterile pyuria, Cholecy...	ORPHA:2331
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:2479
Proteus Syndrome	Macroorchidism, Testicular neoplasm, Retinal hamartoma, Kyphosis, Neoplasm of the thymus, Viscera...	ORPHA:744
Teebi-Shaltout Syndrome	Microphthalmia, Short stature	OMIM:272950
Subacute Cutaneous Lupus Erythematosus	Dermal atrophy, Annular cutaneous lesion, Cheilitis	ORPHA:163525
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Scoliosis	OMIM:301040
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
2P15P16.1 Microdeletion Syndrome	Kyphosis, Decreased testicular size, Scoliosis	ORPHA:261349
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemi...	OMIM:232240
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Renal insufficiency, Orchitis, Jaundice, Neutrophilia in presence o...	ORPHA:99826
Noonan Syndrome 14	Cryptorchidism, Kyphosis, Short neck	OMIM:619745
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon...	ORPHA:100079
16Q24.3 Microdeletion Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:261250
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio...	ORPHA:2152
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Cryptorchidism	OMIM:619244
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Pulmonary edema	ORPHA:137675
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Polyhydramnios, Meningocele, Occipital myelomeningocele, Umbilical h...	ORPHA:567
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio...	ORPHA:261552
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
Myhre Syndrome	Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Intra...	OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:608670
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:500055
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Micr...	OMIM:606170
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Decreased testicular size, Inguinal hernia, Hypospadias, Accessor...	ORPHA:672
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Kyphosis, Hepatic fibrosis, Hepatic steatosis	OMIM:212065
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Scoliosis	OMIM:618493
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation	OMIM:620005
Leptospirosis	Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Acute kidney injury, ...	ORPHA:509
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616975
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Xeroderma Pigmentosum, Complementation Group A	Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus	OMIM:278700
Weaver Syndrome	Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism	OMIM:277590
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio...	OMIM:618280
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert...	ORPHA:1724
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Sagittal craniosynostosis, Craniosynostosis, Cleft palate, ...	OMIM:218600
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Fontaine Progeroid Syndrome	Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation	OMIM:612289
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Epidermal nevus, Supernumerary nipple, Preauricular skin tag, A...	OMIM:600268
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610829
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Cleft palate, Chor...	OMIM:309801
Yunis-Varon Syndrome	Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat...	ORPHA:3472
Triosephosphate Isomerase Deficiency	Kyphosis, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Decreased testicular size, Scoliosis, Cryptorchidism	ORPHA:398069
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:2538
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Alexander Disease	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:58
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation	OMIM:236680
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Elevated hepatic transaminase, Kyphosis, Jaundice, Neurofibroma, Abnormal curvature of...	OMIM:619475
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis	OMIM:616894
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Kyphosis, Scoliosis, Cryptorchidism	OMIM:619005
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Aplasia of th...	OMIM:274000
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Alström Syndrome	Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Hypergonadotropic hypogonadism...	ORPHA:64
Fryns Syndrome	Microphthalmia, Chylothorax, Polyhydramnios	OMIM:229850
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Prader-Willi Syndrome	Kyphosis, Scoliosis, Cryptorchidism	OMIM:176270
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Hepatosplenomega...	ORPHA:3385
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Aicardi Syndrome	Microphthalmia, Delayed puberty	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, Short stature, True anophthalmia	ORPHA:1106
1P36 Deletion Syndrome	Kyphosis, Cryptorchidism, Spinal canal stenosis, Abnormality of the liver, Scoliosis, Neuroblasto...	ORPHA:1606
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis	OMIM:616914
Mowat-Wilson Syndrome	Delayed eruption of teeth, Hypospadias, Supernumerary nipple, Cryptorchidism, Submucous cleft har...	OMIM:235730
Mend Syndrome	Microphthalmia, Short stature	ORPHA:401973
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Mgat2-Cdg	Kyphosis, Scoliosis	ORPHA:79329
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Short neck, Kyphosis, Biliary cirrhosis, Melanoma, Cholestatic liv...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Short neck, Kyphosis, Biliary cirrhosis, Melanoma, Cholestatic liv...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Short neck, Kyphosis, Biliary cirrhosis, Melanoma, Cholestatic liv...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Short neck, Kyphosis, Biliary cirrhosis, Melanoma, Cholestatic liv...	ORPHA:881
Cockayne Syndrome Type 3	Microphthalmia, Mild postnatal growth retardation	ORPHA:90324
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Biliary tract abnormality, Abnormal fo...	OMIM:194190
Degcags Syndrome	Microphthalmia, Polyhydramnios, Intrauterine growth retardation	OMIM:619488
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Osteomalacia, Myocardial calcification, Abnormal calcification of the carpal b...	ORPHA:51608
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Hajdu-Cheney Syndrome	Hepatomegaly, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave verteb...	ORPHA:955
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Classic Homocystinuria	Elevated hepatic transaminase, Kyphosis, Scoliosis, Hepatomegaly	ORPHA:394
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Cryptorchidism	OMIM:619123
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Scoliosis	OMIM:618050
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Kyphosis, Abnormality of the cervical spine, Scoliosis, Cryptorchidism	ORPHA:464311
Frank-Ter Haar Syndrome	Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis, Cryptorchidism	OMIM:619718
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis	OMIM:617527
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Plaa-Associated Neurodevelopmental Disorder	Kyphosis	ORPHA:521426
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Dyrk1A-Related Intellectual Disability Syndrome	Kyphosis, Abnormality of the cervical spine, Scoliosis, Cryptorchidism	ORPHA:464306
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Polyhydramnios, Growth delay, Microphthalmia, Intrauterine grow...	OMIM:613406
Neuroocular Syndrome	Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:619539
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B...	ORPHA:508488
Cdags Syndrome	Kyphosis	OMIM:603116
Charge Syndrome	Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ...	OMIM:214800
Somatomammotropinoma	Kyphosis, Pituitary adenoma, Spinal canal stenosis, Pituitary prolactin cell adenoma, Pituitary g...	ORPHA:314769
Monosomy 9P	Microphthalmia	ORPHA:261112
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Kyphosis, Lumbar hyperlordosis, Cryptorchidism	ORPHA:2232
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Acromegaly	Kyphosis, Pituitary prolactin cell adenoma, Spinal canal stenosis, Pituitary growth hormone cell ...	ORPHA:963
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis	OMIM:619708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Marden-Walker Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en...	ORPHA:3042
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Aspartylglucosaminuria	Hepatomegaly, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of verte...	OMIM:208400
Renpenning Syndrome 1	Microphthalmia, Short stature	OMIM:309500
Zttk Syndrome	Kyphosis, Hemivertebrae, Scoliosis, Absent gallbladder	OMIM:617140
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:457359
Mucolipidosis Type Ii	Kyphosis, Hepatosplenomegaly	ORPHA:576
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Kyphosis, Sacral dimple, Scoliosis, Cryptorchidism	ORPHA:268261
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Mend Syndrome	Kyphosis, Sacral dimple, Cryptorchidism	OMIM:300960
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia	OMIM:130050
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism	OMIM:300967
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Holoprosencephaly 1	Microphthalmia, Short stature	OMIM:236100
Okamoto Syndrome	Splenomegaly, Bifid uterus	ORPHA:2729
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Postnatal growth retardation, Frontal encephalocele, Severe intrauterine growth r...	OMIM:268300
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty	ORPHA:649
Marfan Syndrome	Kyphosis, Scoliosis, Spondylolisthesis	ORPHA:558
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Increased nuchal translucency	OMIM:617635
Williams Syndrome	Sacral dimple, Hyperlordosis, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Ve...	ORPHA:904
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ...	ORPHA:2273
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Viss Syndrome	Exostosis of the external auditory canal, Kyphosis, Butterfly vertebrae, Scoliosis	OMIM:619472
Townes-Brocks Syndrome	Microphthalmia, Short stature, Delayed puberty	ORPHA:857
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Cryptorchidism, Scoliosis	ORPHA:502434
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Primrose Syndrome	Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Irregular vertebral endplates, Posterior scal...	OMIM:259050
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia	OMIM:309800
Yunis-Varon Syndrome	Kyphosis, Anterior concavity of thoracic vertebrae, Cryptorchidism	OMIM:216340

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 Stag1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Stag1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cohesin Members Stag1 and Stag2 Display Distinct Roles in Chromatin Accessibility and Topological Control of HSC Self-Renewal and Differentiation.	Cell stem cell (August 2019)	Stag1^{tm1c(EUCOMM)Hmgu}	31495782

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Stag1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Stag1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Stag1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Stag1 MGI:1098658

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

X-ray

Human diseases caused by Stag1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data