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Gene: Kmt2a MGI:96995

Gene Summary

Name:

lysine (K)-specific methyltransferase 2A

Synonyms:

All1, Mll, HTRX1, Cxxc7, trithorax Drosophila, Mll1, ALL-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
increased lean body mass	Kmt2a^{em1(IMPC)Marc}	HET	Early adult	2.93×10^-05
increased heart rate	Kmt2a^{em1(IMPC)Marc}	HET	Early adult	2.95×10^-06
abnormal retina morphology	Kmt2a^{em1(IMPC)Marc}	HET	Early adult	2.47×10^-06
preweaning lethality, complete penetrance	Kmt2a^{em1(IMPC)Marc}	HOM	Early adult	0.00
decreased bone mineral density	Kmt2a^{em1(IMPC)Marc}	HET	Early adult	2.13×10^-05

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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.

Phenotype associated images not available

Human diseases caused by Kmt2a 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 Kmt2a (2 diseases)
Human diseases predicted to be associated with Kmt2a (2409 diseases)

The table below shows human diseases associated to Kmt2a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Wiedemann-Steiner Syndrome		Sacral dimple, Short stature, Tapered finger, Postnatal growth retardation, Contracture of the di...	OMIM:605130
Wiedemann-Steiner Syndrome		Synophrys, Wide nasal bridge, Long eyelashes, Low-set ears, Congenital, generalized hypertrichosi...	ORPHA:319182

The table below shows human diseases predicted to be associated to Kmt2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect	OMIM:608681
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma	OMIM:247640
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral ...	ORPHA:3319
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly	OMIM:214300
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder	OMIM:131440
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Facial palsy, Short neck	ORPHA:3456
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno...	OMIM:153600
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation, Scoliosis	ORPHA:2802
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib...	ORPHA:2522
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Cervical Rib	Cervical ribs	OMIM:117900
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias	OMIM:619096
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diaphanospondylodysostosis	Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b...	ORPHA:66637
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia	OMIM:614743
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,...	ORPHA:3268
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar...	ORPHA:64755
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Myelodysplasia, Sensorineural hearing impairment, Acute lymphoblastic leukemia, Neutropenia, Cond...	OMIM:610738
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno...	ORPHA:2790
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia	OMIM:246470
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Optic atrophy, Thoracic kyphosis, Scoliosis	ORPHA:530983
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis	ORPHA:93304
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
N Syndrome	Leukemia, Neoplasm, Hearing impairment	OMIM:310465
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ...	ORPHA:40
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Femoral-Facial Syndrome	Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal...	ORPHA:1988
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Immunodeficiency 53	Recurrent otitis media, Failure to thrive, Neutrophilia, Impaired lymphocyte transformation with ...	OMIM:617585
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem...	ORPHA:486
Forsythe-Wakeling Syndrome	Thrombocytopenia, Macrotia, Low-set ears, Decreased body weight	OMIM:613606
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm	ORPHA:168555
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect	OMIM:618845
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm...	OMIM:601399
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Depressed nasal bridge, Splenomegaly, Decreased proportion of CD8-positive, alpha-b...	OMIM:619824
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs...	OMIM:613686
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Heart Defects-Limb Shortening Syndrome	Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:1354
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax...	ORPHA:1801
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis	OMIM:619281
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent...	ORPHA:45452
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Thoracic hypoplasia, Short long bone, Scoliosis, Camptodactyly, Intraut...	OMIM:619751
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity	OMIM:605724
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Wt Limb-Blood Syndrome	Pancytopenia, Sensorineural hearing impairment, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c...	OMIM:612852
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irreg...	OMIM:602271
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ...	OMIM:619151
Frontometaphyseal Dysplasia 1	Scapular winging, Dislocated radial head, Limited elbow movement, Interphalangeal joint contractu...	OMIM:305620
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Pectus carinatum,...	ORPHA:313892
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Nephroblastoma, Large earlobe, Leukemia, Meningioma	OMIM:602501
Kuskokwim Syndrome	Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o...	ORPHA:1149
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Arnold-Chiari Malformation Type I	Stiff neck, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abnormality of t...	ORPHA:268882
Lower Limb Malformation-Hypospadias Syndrome	Low-set, posteriorly rotated ears, Abnormality of the spleen, Macrotia	ORPHA:2487
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Acropectorovertebral Dysplasia	Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu...	OMIM:102510
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Primary Erythromelalgia	Leukemia	ORPHA:90026
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo...	OMIM:618000
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb...	OMIM:113000
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, F...	OMIM:619644
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Storage Pool Platelet Disease	Myelodysplasia, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus...	OMIM:259440
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo...	ORPHA:2635
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver...	OMIM:619227
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Aplasia/Hypoplasia of the phalanges of the hallux, ...	ORPHA:337
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Bleeding Disorder, Platelet-Type, 19	Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Short stature, Ovoid vertebral bodies, Anterior rib cupping...	OMIM:260400
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Premature graying of ...	OMIM:614742
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho...	OMIM:178110
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of...	OMIM:608728
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Thrombocytopenia	OMIM:189800
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Noonan Syndrome 12	11 pairs of ribs, Proximal placement of thumb, Pectus excavatum, Spinal canal stenosis, Lymphopen...	OMIM:618624
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs...	OMIM:271520
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Thrombocytopenia	OMIM:166990
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Depressed nasal bridge, Long eyebrows, Sensorineura...	OMIM:613224
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Ch...	OMIM:616005
Cernunnos-Xlf Deficiency	Thrombocytopenia, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Anemia	ORPHA:169079
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Progressive hearin...	ORPHA:514
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate...	ORPHA:3320
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
11P15.4 Microduplication Syndrome	Posteriorly rotated ears, Anteverted nares, Highly arched eyebrow, Synophrys, Obesity, Macrotia	ORPHA:300305
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Growth delay, Diaphys...	OMIM:614727
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Leber Hereditary Optic Neuropathy	Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuosity, Ar...	ORPHA:104
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb...	OMIM:617796
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Otoonychoperoneal Syndrome	Posteriorly rotated ears, Abnormality of the ear, Low-set ears, Prominent superior crus of antihe...	OMIM:259780
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Low anterior hairline, Wide nasal bridge, Lym...	ORPHA:99812
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Intellectual Developmental Disorder, X-Linked 97	Macrotia, Obesity	OMIM:300803
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi...	ORPHA:168549
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr...	ORPHA:1724
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck	OMIM:244600
17Q21.31 Microduplication Syndrome	Anteverted nares, Synophrys, Short nose, Failure to thrive, Abnormality of the outer ear, General...	ORPHA:217340
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Macrotia, Posteriorly rotated ears, Decreased body weight	OMIM:618392
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr...	OMIM:613982
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Diencephalic Syndrome	Neoplasm of the nervous system, Macrotia, Cachexia, Decreased body weight	ORPHA:1672
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Chromosome 3Q29 Deletion Syndrome	Small for gestational age, Posteriorly rotated ears, Macrotia, Low-set ears, Failure to thrive	OMIM:609425
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Fanconi Anemia, Complementation Group I	Fused cervical vertebrae, Optic nerve hypoplasia, Short neck	OMIM:609053
Cerebrofaciothoracic Dysplasia	Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi...	ORPHA:1394
Atelosteogenesis, Type I	11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow dislocation, Bell-sha...	OMIM:108720
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma...	OMIM:615617
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia	OMIM:124900
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Splenomegaly, Growth delay, Anemia, Sclerotic vertebral endplates, Thrombocytopenia	OMIM:611490
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Fetal Parvovirus Syndrome	Intrauterine growth retardation, Thrombocytopenia, Anemia	ORPHA:295
Neuronal Intranuclear Inclusion Disease	Optic atrophy, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Thrombocytopenia	ORPHA:1980
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Growth delay, Decreased testicular size, Thrombocytopenia, Adducted thumb	OMIM:601815
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis	ORPHA:1445
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Femoral b...	OMIM:608940
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia,...	OMIM:612541
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, ...	ORPHA:90033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contr...	OMIM:606612
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Shashi-Pena Syndrome	Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion	OMIM:617190
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Basal cell carcinoma,...	ORPHA:113
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho...	OMIM:255710
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Dermotrichic Syndrome	Depressed nasal bridge, Hyperconvex toenail, Nail dystrophy, Short nose, Macrotia, Anemia	ORPHA:99688
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Variegate Porphyria	Tachycardia	OMIM:176200
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Squared iliac bones, Rib fusi...	OMIM:611209
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof	OMIM:617159
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Short metatarsal, Abnormal rib morphology, Abnormal carpal morphology, Pectus c...	ORPHA:93351
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Abnormality of the cervica...	ORPHA:221098
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Trisomy 4P	Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal hair pattern, Low anterior ha...	ORPHA:1738
Lig4 Syndrome	Pancytopenia, Small for gestational age, Myelodysplasia, Prominent nose, Low anterior hairline, W...	OMIM:606593
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K...	OMIM:313400
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral...	OMIM:602111
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte...	OMIM:618395
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C...	ORPHA:2332
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular acetabular roof, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypop...	OMIM:184252
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Microcephaly 17, Primary, Autosomal Recessive	Macrotia, Bulbous nose, Failure to thrive, Low anterior hairline	OMIM:617090
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger...	OMIM:616738
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Depressed nasal bridge, Prominent nasal bridge, Supernumerary nipple, Highly arched eyebrow, Myel...	OMIM:619951
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Macdermot-Winter Syndrome	Posteriorly rotated ears, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, ...	OMIM:247990
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Macrotia, Depressed nasal bridge, Highly arched eyebrow	ORPHA:438178
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Ring Chromosome 6 Syndrome	Macrotia, Wide nasal bridge	ORPHA:1448
Thymoma	Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi...	ORPHA:99867
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Rafiq Syndrome	Wide nose, Highly arched eyebrow, Prominent nose, Sparse eyebrow, Long eyebrows, Bulbous nose, Wi...	OMIM:614202
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia	ORPHA:281090
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Niemann-Pick Disease, Type B	Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, An...	OMIM:607616
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Depressed nasal bridge, Pr...	ORPHA:647
Intellectual Disability, Wolff Type	Bulbous nose, Macrotia, Wide nasal bridge, Low posterior hairline, Hypoplastic superior helix, Ab...	ORPHA:3080
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Dk Phocomelia Syndrome	Phocomelia, Thrombocytopenia	OMIM:223340
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Verheij Syndrome	Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae, Hip dislocatio...	OMIM:615583
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2916
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ...	ORPHA:474
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Ivic Syndrome	Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th...	ORPHA:2307
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Scoliosis, Delayed puberty	ORPHA:2598
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Warburg Micro Syndrome 1	Anteverted nares, Macrotia, Wide nasal bridge, Low-set ears, Facial hypertrichosis, Failure to th...	OMIM:600118
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Thrombocytopenia, Hepatosplenomegaly, Erlenme...	ORPHA:210110
Acrocephalopolydactyly	Short nose, Microtia, Depressed nasal ridge, Hepatosplenomegaly	ORPHA:221054
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ...	ORPHA:93315
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow...	OMIM:613563
Aicardi-Goutieres Syndrome 6	Splenomegaly, Intrauterine growth retardation, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Multiple Symmetric Lipomatosis	Hepatomegaly, Multiple lipomas	ORPHA:2398
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Specific Granule Deficiency 2	Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Myelody...	OMIM:617475
Gorlin Syndrome	Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis	ORPHA:377
Pierpont Syndrome	Small for gestational age, Wide nasal ridge, Uplifted earlobe, Posteriorly rotated ears, High ant...	ORPHA:487825
Chung-Jansen Syndrome	Anteverted nares, Synophrys, Obesity, Large earlobe, Short nose, Macrotia, Thick eyebrow	OMIM:617991
Lethal Osteosclerotic Bone Dysplasia	Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Gingival fibromatosis, Low-set...	ORPHA:1832
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ...	ORPHA:93267
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophils, Hearing impairment, Splen...	ORPHA:33226
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short palm, Neonatal ...	OMIM:250250
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Facial palsy, Optic n...	ORPHA:508498
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Bleeding Disorder, Platelet-Type, 20	Menorrhagia, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Menorrhagia, Thrombocytopenia	OMIM:613554
Zimmermann-Laband Syndrome	Hepatomegaly, Wide nose, Splenomegaly, Bulbous nose, Sensorineural hearing impairment, Gingival f...	ORPHA:3473
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neopl...	ORPHA:2584
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia	OMIM:610539
Intellectual Developmental Disorder, X-Linked 9	Macrotia, Depressed nasal bridge	OMIM:309549
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Hearing impairment, Hyperechogenic pancrea...	OMIM:617052
Bone Marrow Failure Syndrome 4	Rhizomelia, Short stature, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Weight loss	OMIM:188580
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali...	ORPHA:1486
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Duane-Radial Ray Syndrome	Aganglionic megacolon, Facial palsy, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, S...	OMIM:607323
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Intellectual Developmental Disorder, X-Linked 45	Macrotia, Protruding ear	OMIM:300498
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m...	OMIM:187601
Mehmo Syndrome	Small for gestational age, Broad nasal tip, Obesity, Depressed nasal tip, Macrotia	OMIM:300148
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Pierpont Syndrome	Wide nose, Posteriorly rotated ears, Broad nasal tip, High anterior hairline, Large fleshy ears, ...	OMIM:602342
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Cachexia, Underdeveloped nasal alae, Prominent nose, Synophrys...	ORPHA:2471
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Down Syndrome	Depressed nasal bridge, Conductive hearing impairment, Abnormality of the lymphatic system, Depre...	ORPHA:870
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia, Intrau...	ORPHA:2643
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme...	ORPHA:628
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy...	ORPHA:811
Braddock-Carey Syndrome 1	Curly hair, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Sparse hair, Macrotia,...	OMIM:619980
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture	ORPHA:85193
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Alpha-Mannosidosis	Hepatomegaly, Depressed nasal bridge, Splenomegaly, Abnormal helix morphology, Chronic otitis med...	ORPHA:61
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171420
Abruzzo-Erickson Syndrome	Macrotia, Hearing impairment, Protruding ear	OMIM:302905
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276556
Rothmund-Thomson Syndrome Type 2	Slender nose, Aplastic anemia, Small for gestational age, Alopecia totalis, Myelodysplasia, Long ...	ORPHA:221016
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Osteoporosis, Pigmentary retinopathy, H...	OMIM:618234
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, B lymphocytopenia, ...	ORPHA:397596
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Depressed nasal bridge, Macrotia, Small for gestational age	ORPHA:319332
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Fail...	OMIM:613501
Kbg Syndrome	Vertebral fusion, Syndactyly, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl...	OMIM:148050
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ...	OMIM:269250
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ...	OMIM:268310
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Intellectual Developmental Disorder, Autosomal Recessive 72	Narrow nasal base, Posteriorly rotated ears, Wide nasal ridge, Prominent nose, Broad nasal tip, L...	OMIM:618665
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Proximal 16P11.2 Microdeletion Syndrome	Rib fusion, Hand polydactyly, Abnormal vertebral morphology, Scoliosis	ORPHA:261197
Apert Syndrome	Vertebral segmentation defect, Optic atrophy, Cervical C5/C6 vertebrae fusion	ORPHA:87
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Abnormal nasal morphology, Macrotia, Sparse body hair, Aplasia/Hypop...	ORPHA:2850
Schimke Immunoosseous Dysplasia	Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,...	OMIM:242900
Hypophosphatasia	Bowing of the long bones, Short stature, Abnormal rib morphology, Narrow chest, Abnormal metaphys...	ORPHA:436
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Ataxia-Telangiectasia	Lymphopenia, Abnormal hair morphology, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, ...	OMIM:208900
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Ring Chromosome 8 Syndrome	Round ear, Short nose, Anteverted nares, Low posterior hairline	ORPHA:1450
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Anteverted nares, Broad nasal tip, Synophrys, Recurrent upper respiratory tract infections, Incre...	ORPHA:589905
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Small for gestational age, Anteverted nares, Nephroblastoma, P...	OMIM:257300
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Short nose, Anteverted nares	ORPHA:2015
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Rothmund-Thomson Syndrome	Aplastic anemia, Small for gestational age, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, M...	ORPHA:2909
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia, Lumbar kyphosis	OMIM:620184
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Diamond-Blackfan Anemia	Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Neutropenia, Adenoca...	ORPHA:124
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Trichothiodystrophy 1, Photosensitive	Brittle hair, Small for gestational age, Trichoschisis, Trichorrhexis nodosa, Fine hair, Squamous...	OMIM:601675
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Prominent nose, Recurrent upper respiratory t...	OMIM:210900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276575
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Intellectual Developmental Disorder, X-Linked 101	Macrotia	OMIM:300928
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ...	OMIM:133780
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c...	OMIM:620282
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal fingernail morphology, Anteverted ...	ORPHA:2701
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Anterior rib cuppin...	OMIM:102700
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Short neck, Abnormal thumb morphology, Abnormal femur morpholo...	ORPHA:1842
Intellectual Developmental Disorder, X-Linked 91	Short nose, Obesity, Low posterior hairline	OMIM:300577
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Macrotia, Synophrys, Lymphopenia, Prominent nose	ORPHA:391307
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iy	Failure to thrive, Macrotia	OMIM:300934
Tatton-Brown-Rahman Syndrome	Obesity, Short columella, Myeloid leukemia, Neuroendocrine neoplasm, Thick eyebrow	ORPHA:404443
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose	OMIM:612563
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Depressed nasal bridge, Anteverted nares, Sparse eyebrow, Bulbous nose, Macrotia, Thick eyebrow	OMIM:617268
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short stature, Microcytic anemia, Short neck, Cryptorchidism, Short toe, Pectus carinatum, HbH he...	ORPHA:98791
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Radial bowing, Ovoid vertebral bodies, Dumbbell-shaped long bone, Sho...	OMIM:151210
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Combined Oxidative Phosphorylation Deficiency 54	Retrobulbar optic neuritis, Tachycardia, Optic disc pallor, Obesity	OMIM:619737
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Horizontal ribs, Cryptorchidism, Growth delay, Bell-shaped thorax, Normochromic anemia, Neutropen...	OMIM:614857
Cednik Syndrome	Sensorineural hearing impairment, Macrotia, Depressed nasal ridge, Prominent nasal bridge	ORPHA:66631
Three M Syndrome 1	Scapular winging, Short stature, Hyperlordosis, Short neck, Increased vertebral height, Postnatal...	OMIM:273750
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia, ...	ORPHA:2575
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Menorrhagia, Impaired ristocetin-induce...	OMIM:231200
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Macrotia, Wide nasal ridge, Low-set ears	ORPHA:3433
Fried Syndrome	Macrotia, Hearing impairment	ORPHA:85335
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpitations	ORPHA:324575
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Chops Syndrome	Tracheomalacia, Cervical C2/C3 vertebral fusion, Optic atrophy	OMIM:616368
Fanconi Anemia, Complementation Group V	Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	OMIM:617243
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Small for gestational age, Alopecia totalis, Myelodysplasia, Squamous cell carci...	ORPHA:221008
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Intellectual Developmental Disorder, Autosomal Recessive 39	Anteverted ears, Synophrys, Macrotia, Prominent nose	OMIM:615541
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Increased body weight	ORPHA:276608
Bilateral Polymicrogyria	Facial diplegia, Abnormality of masticatory muscle, Arthrogryposis multiplex congenita, Abnormal ...	ORPHA:268940
Bloom Syndrome	Paronychia, Neoplasm, Neoplasm of the breast, Otitis media, Decreased proportion of CD4-positive ...	ORPHA:125
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Macrotia	ORPHA:397933
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cachexia, Prominent nose, Sensorineural hearing impairme...	ORPHA:3242
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ...	OMIM:227645
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares, Hypopigmentation of hair	ORPHA:1355
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A...	ORPHA:915
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc...	OMIM:615387
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Bulbous nose, Macrotia, Wide nasal bridge, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of ...	ORPHA:261304
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia	ORPHA:37748
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck...	OMIM:272460
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Low-frequency senso...	OMIM:613101
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me...	OMIM:300863
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Rib fusion, Symphalangism affecting...	ORPHA:2990
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Infantile Sialic Acid Storage Disease	Hepatomegaly, Fair hair, Anteverted nares, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, As...	OMIM:269920
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Epiphyseal dysplasia, Short stature, Eosinophilia, Hy...	ORPHA:353298
X-Linked Intellectual Disability, Sutherland-Haan Type	Macrotia, Small for gestational age, Decreased body weight	ORPHA:93950
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Macrocephaly/Autism Syndrome	Hepatomegaly, Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesity, Coarse ha...	OMIM:605309
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Short ...	OMIM:213980
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Short stature, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:229717
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Anteverted nares, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail...	OMIM:234050
Omenn Syndrome	Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Ly...	ORPHA:39041
Apert Syndrome	Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat...	OMIM:101200
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Pontocerebellar Hypoplasia, Type 3	Depressed nasal bridge, Low-set ears, Decreased body weight, Macrotia, Hearing impairment	OMIM:608027
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Perlman Syndrome	Hepatomegaly, Anteverted nares, Nephroblastoma, Posteriorly rotated ears, Abnormal pancreas morph...	ORPHA:2849
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
X-Linked Intellectual Disability, Porteous Type	Frontal balding, Bulbous nose, Cupped ear, Decreased body weight, Macrotia	ORPHA:93945
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Abnormal pinna morphology, Synophrys, Wide nasal bridge, Obesity, Large fleshy ears, Horizontal e...	ORPHA:352530
Intellectual Developmental Disorder, Autosomal Recessive 48	Macrotia	OMIM:616269
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, B lymphoc...	OMIM:614069
15Q13.3 Microdeletion Syndrome	Prominent nasal tip, Macrotia, Protruding ear	ORPHA:199318
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Recurrent pharyng...	OMIM:308240
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal ri...	ORPHA:3035
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
3M Syndrome	Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly...	ORPHA:2616
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Short stature, Diaphyseal thickening	ORPHA:1513
Acrocapitofemoral Dysplasia	Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast...	OMIM:607778
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Vertebral compression fracture, Erlenmeyer fla...	OMIM:230800
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc...	ORPHA:3027
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia, Short stature, Scoliosis	OMIM:616577
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Borjeson-Forssman-Lehmann Syndrome	Macrotia, Obesity	OMIM:301900
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ...	OMIM:617137
Man1B1-Cdg	Wide nose, Long eyebrows, Prominent nose, Sparse eyebrow, Abnormal position of hair whorl, Wide n...	ORPHA:397941
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr...	ORPHA:3243
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Barth Syndrome	Fair hair, Cyclic neutropenia, Macrotia, Hypochromic microcytic anemia, Granulocytopenia, Neutrop...	OMIM:302060
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Macrotia, Highly arched eyebrow	OMIM:616154
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Brittle hair, Abdominal adhesions, Neoplasm of the skin, Neutropenia, Low-set ...	OMIM:616395
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Weaver Syndrome	Deep-set nails, Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Thin nail, Hyp...	ORPHA:3447
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Otoonychoperoneal Syndrome	Underfolded helix, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Abnormal he...	ORPHA:2793
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Temple-Baraitser Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Hypoplastic thumbnail, Absent nail of hallux...	ORPHA:420561
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
White Forelock With Malformations	Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S...	ORPHA:2475
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge...	ORPHA:2180
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Hematolo...	ORPHA:824
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Long clavicles, Elbow dislocation, Lateral clavicle hook, Anterior vertebral fusion, Shoulder dis...	OMIM:171480
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thro...	ORPHA:848
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged mesenteric...	OMIM:209950
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios...	ORPHA:50
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pyoderma Gangrenosum	Myeloid leukemia, Myelodysplasia	ORPHA:48104
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo...	OMIM:617952
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme level, Myeloproliferative disorder, Hearing impairment	ORPHA:100924
Kenny-Caffey Syndrome, Type 1	Long clavicles, Proportionate short stature, Thin clavicles, Small hand, Thin ribs, Birth length ...	OMIM:244460
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Short neck, Metatarsus valgus, Kyphosis, Pos...	ORPHA:3082
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Throm...	ORPHA:2123
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Small for gestational age, Synophrys, Sensorineural hearing impairme...	ORPHA:391408
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Weight loss, O...	ORPHA:2221
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Short metacarpal, Short stature, Eosinophilia, Postna...	OMIM:616651
Diamond-Blackfan Anemia 1	Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triphalangeal thumb...	OMIM:105650
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form...	ORPHA:2021
Fanconi Anemia, Complementation Group B	Aplastic anemia, Hypergonadotropic hypogonadism, Short neck, Absent thumb, Bilateral radial aplas...	OMIM:300514
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Splenomegaly, Low posterior hairline, Anemia, Concave nasal...	OMIM:170100
Intellectual Developmental Disorder, Autosomal Dominant 65	Anteverted nares, Posteriorly rotated ears, Bulbous nose, Synophrys, Wide nasal bridge, Low poste...	OMIM:619320
Coffin-Siris Syndrome 7	Sparse scalp hair, Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears,...	OMIM:618027
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join...	ORPHA:2759
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Dystonia 31	Abnormal posturing	OMIM:619565
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thoracolumbar scoliosis, Broad h...	OMIM:618019
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Low-set ears	ORPHA:46
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Wide capital femoral epiphyses, Shor...	ORPHA:1830
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap...	ORPHA:1507
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Abnormal pinna morphology, Prominent nasal bridge, Highly arched eyebrow, Macrotia, Wide nasal br...	OMIM:617452
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg...	ORPHA:2930
Cog1-Cdg	Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion, Posterior r...	ORPHA:263508
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon...	OMIM:619698
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Flexion contracture, Interphalangeal thumb joint contracture	OMIM:613870
Martsolf Syndrome 2	Broad nasal tip, Macrotia, Decreased body weight	OMIM:619420
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Albinism, Splenomegaly, Low-set ears, Neutropenia, Macrotia	OMIM:617050
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra...	OMIM:157800
Tick-Borne Encephalitis	Back pain, Facial palsy, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal auton...	ORPHA:297
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,...	OMIM:147750
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Failure to thrive, Sensorineural hearing impairment	OMIM:618379
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Shor...	OMIM:613673
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites	ORPHA:890
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o...	OMIM:109400
Allan-Herndon-Dudley Syndrome	Prominent antihelix, Macrotia, Stahl ear, Underfolded superior helices	OMIM:300523
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Neoplasm of the cent...	ORPHA:69077
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi...	ORPHA:296
Distal Deletion 10P	Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Hypoplastic toenails, Hearing ...	ORPHA:1580
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Mirage Syndrome	Overlapping fingers, Short stature, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial cl...	OMIM:617053
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val...	OMIM:618150
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymphocytes, Depressed n...	OMIM:248500
Congenital Toxoplasmosis	Intrauterine growth retardation, Thrombocytopenia, Anemia	ORPHA:858
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Mucopolysaccharidosis Type 4	Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax...	ORPHA:582
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow...	OMIM:227646
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Clinodactyly, Radial deviation of finger	OMIM:188025
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,...	OMIM:166210
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Ma...	OMIM:613496
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Short nose, Macrotia, Low-set ears	OMIM:615419
Charlie M Syndrome	Abnormal toenail morphology, Macrotia, Abnormal fingernail morphology, Wide nasal bridge	ORPHA:1406
Cleft Palate-Large Ears-Small Head Syndrome	Macrotia, Protruding ear	ORPHA:2013
Sézary Syndrome	Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Nail ...	ORPHA:3162
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas	ORPHA:2924
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Anemia	ORPHA:28
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Pectus excavatum, Dislocate...	OMIM:150250
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Short stature, Thrombocytopenia, Abnormal thorax morphology, Ret...	ORPHA:508542
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Pancytopenia, Femur fracture, Thrombocytopenia, Splenome...	OMIM:259700
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Sparse scalp hair, Depressed nasal bridge, Abnormal fingernail...	ORPHA:235
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Hearing impairment, Fragile nails, Fine hair	ORPHA:500166
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca...	OMIM:616229
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Short stature, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocyto...	OMIM:616050
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Short stature, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Th...	OMIM:249270
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Iliac crest serration, Short neck, Postnatal growth retardation, Wide distal femor...	OMIM:613320
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ...	OMIM:617443
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macrotia, Bilateral sensorineural hearing impairment, Obesity	OMIM:300238
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Bulbous nose, Widow's peak, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer...	OMIM:304050
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Right...	ORPHA:1329
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Optic...	ORPHA:49827
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm	OMIM:240500
Mosaic Trisomy 14	Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck	ORPHA:1703
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Failure to thrive, Red...	OMIM:609981
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Short nose, Thick eyebrow	ORPHA:2429
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R...	ORPHA:542306
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip	OMIM:613670
Intellectual Developmental Disorder, Autosomal Dominant 7	Small for gestational age, Failure to thrive in infancy, Abnormal pinna morphology, Bulbous nose,...	OMIM:614104
Auriculoosteodysplasia	Attached earlobe, Macrotia, Aplasia/Hypoplasia of the earlobes	ORPHA:114
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy...	OMIM:253000
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Thrombocytopenia,...	ORPHA:906
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Abnormal hair pattern, Highly arched eyebrow, U...	ORPHA:2083
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Highly arched eyebrow, Short nose, Spa...	ORPHA:261120
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Myelodysplasia, Thrombocyto...	ORPHA:3260
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le...	ORPHA:507
Babesiosis	Hemolytic anemia, Clinodactyly of the 5th toe, Splenomegaly, Leukopenia, Thrombocytopenia	ORPHA:108
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Depressed nasal bridge, Hepatosplenomegaly, Low-set ears, Short ...	OMIM:608776
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con...	ORPHA:2484
Noonan Syndrome 2	Curly hair, Posteriorly rotated ears, Sparse eyebrow, Low posterior hairline, Low-set ears, Leukemia	OMIM:605275
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Large fleshy ears, Failure to thrive, Wide nasal bridge	OMIM:619556
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Potocki-Shaffer Syndrome	Multiple exostoses, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Sparse lateral eyebrow	OMIM:601224
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnormal shoulder morphology, Fused cer...	OMIM:274000
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Macrotia, Convex nasal ridge, Protruding ear	OMIM:251240
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote...	ORPHA:449285
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Depressed nasal bridge, Bulbous nose, Low anterior hairline, Wide nasal bridge, Frontal upsweep o...	ORPHA:369891
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Thrombocytopenia, Cryptorchidism, Camptodactyly, Intrauterine growth retardation, Anemia	OMIM:608104
Felty Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphoma, Weight loss, Anemia, Lymphadenopathy...	ORPHA:47612
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Otofaciocervical Syndrome	Depressed nasal bridge, Anteverted nares, Protruding ear, Abnormal antihelix morphology, Atresia ...	ORPHA:2792
Aredyld Syndrome	Low-set, posteriorly rotated ears, Hepatomegaly, Cachexia, Abnormal nasal morphology, Splenomegal...	ORPHA:1133
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Macrotia, Anteverted nares, Sparse lateral eyebrow	OMIM:619694
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
X-Linked Intellectual Disability, Najm Type	Failure to thrive, Sensorineural hearing impairment, Macrotia, Wide nasal bridge	ORPHA:163937
Intellectual Developmental Disorder, X-Linked 30	Short nose, Macrotia, Anteverted nares, Prominent nasal bridge	OMIM:300558
Achondrogenesis Type 1B	Severe short stature, Short neck, Disproportionate short stature, Abnormal rib morphology, Short ...	ORPHA:93298
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Congenital Rubella Syndrome	Short stature, Splenomegaly, Anemia, Intrauterine growth retardation, Abnormal metaphysis morphol...	ORPHA:290
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Growth delay, Leukopenia, ...	ORPHA:77259
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Wide nasal bridge, Obesity, Fine hair, Microtia, Long eyelashes, Short nose, Macrotia,...	OMIM:620250
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss	OMIM:613239
Intellectual Developmental Disorder, X-Linked 107	Prominent crus of helix, Macrotia, Obesity, Abnormality of superior crus of antihelix	OMIM:301013
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Macrotia, Cardiomegaly	OMIM:613576
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal...	OMIM:300232
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger	ORPHA:544488
Developmental And Epileptic Encephalopathy 64	Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Broad nasal tip, Sparse eyebrow,...	OMIM:618004
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Large fleshy ears, Alopecia, Prominent nose	OMIM:203550
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal...	ORPHA:280
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Long eyebrows, Prominent nose, Prominent antihelix, Macrotia	OMIM:614407
Arteriosclerosis, Severe Juvenile	Short stature, Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Short phalanx...	OMIM:208060
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Sparse eyebrow, Splenomegaly, Low posterior ha...	OMIM:604173
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge, Convex nasal ridge	ORPHA:1695
Congenital Disorder Of Glycosylation, Type Id	Depressed nasal bridge, Bulbous nose, Macrotia, Wide nasal bridge, Small nail, Nail dysplasia, Fa...	OMIM:601110
Christianson Syndrome	Thick eyebrow, Macrotia, Cachexia, Abnormality of the nose	ORPHA:85278
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-pos...	ORPHA:169154
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor...	OMIM:130720
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Gm1 Gangliosidosis	Depressed nasal bridge, Broad nasal tip, Splenomegaly, Macrotia, Depressed nasal ridge, Hepatospl...	ORPHA:354
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, T lymphocytopenia, Low-set ears, Short nose, Failure to...	OMIM:242860
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo...	ORPHA:2050
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Wide nose, Prominent nasal bridge, Highly arched eyebrow, Macrotia, Aplasia/Hypoplasia of the ext...	ORPHA:505237
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Phaver Syndrome	Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral...	ORPHA:2876
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria	OMIM:252900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Thin ribs, Cleft ...	ORPHA:83617
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Obesity, Large earlobe, Low-set ears, Short nose, Low h...	OMIM:617752
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Synophrys, Low posterior hairline, Low-set ears, Short nose, F...	ORPHA:1895
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity	ORPHA:391
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy...	ORPHA:26793
Atkin-Flaitz Syndrome	Macrotia, Anteverted nares, Obesity, Broad nasal tip	ORPHA:1193
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Depressed nasal bridge, Wide nasal bridge,...	OMIM:614602
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr...	ORPHA:79477
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Underdeveloped nasal alae, Low-set ears, Macrotia, Broad columella	ORPHA:436245
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Highly arched eyebrow, Bulbous nose, Synophrys, Low anterior hairline, Macrotia, Protruding ear, ...	ORPHA:329224
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fingers, Postnat...	OMIM:612394
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Maxillonasal Dysplasia, Binder Type	Large earlobe, Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl...	OMIM:605432
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Macrotia, Wide nasal bridge, Short nose	OMIM:620292
Fanconi Anemia, Complementation Group F	Sacral dimple, Short stature, Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radi...	OMIM:603467
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Oropha...	OMIM:305000
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular...	ORPHA:860
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Rhiny	Short nose, Anteverted nares	OMIM:180360
Choroidal Atrophy-Alopecia Syndrome	Glue ear, Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or ...	ORPHA:1433
Andersen-Tawil Syndrome	Joint laxity, Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular ta...	ORPHA:37553
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Koolen-De Vries Syndrome	Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ...	ORPHA:96169
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age	OMIM:245570
Hypophosphatasia, Infantile	Bowing of the legs, Vertebral clefting, Anemia, Platyspondyly, Disproportionate short-limb short ...	OMIM:241500
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Macrotia	OMIM:608930
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t...	ORPHA:163966
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy...	OMIM:611717
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Depressed nasal bridge, Bulbous nose, Synophrys, Low anterior hairline, Wide nasal...	OMIM:617061
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea	OMIM:604250
Benign Schwannoma	Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera...	ORPHA:252164
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Bulbous nose, Synophrys, Low anterior hairline, Long eyelashes, Low-set ea...	OMIM:615009
Pontocerebellar Hypoplasia, Type 11	Bulbous nose, Macrotia, Decreased body weight	OMIM:617695
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Rubinstein-Taybi Syndrome 1	Prominent nose, Low anterior hairline, Papillary cystadenoma of the epididymis, Neoplasm, Hepatic...	OMIM:180849
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula...	OMIM:224300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Sensorineural hearing impairment, Fine hair, Sparse hair, Macrotia, He...	OMIM:616817
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Sulfite Oxidase Deficiency, Isolated	Macrotia, Fine hair	OMIM:272300
Wilson Disease	Back pain, Abnormality of the menstrual cycle, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:905
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature, Anterior concavity of thoracic vertebrae	OMIM:617101
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Decreased proportion of memory B cells,...	OMIM:618048
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Flexion contracture, Osteopo...	OMIM:613327
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Depressed nasal bridge, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synoph...	OMIM:620075
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Highly arched eyebrow, Underdeveloped nasal alae, Long nose, S...	ORPHA:1968
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Sengers Syndrome	Growth delay, Premature ovarian insufficiency, Thrombocytopenia	OMIM:212350
Non-Distal Duplication 13Q	Abnormal fingernail morphology, Hypoplastic toenails, Abnormal eyelash morphology, Synophrys, Apl...	ORPHA:1702
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Wide nose, Anteverted nares, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2526
Dubowitz Syndrome	Sparse scalp hair, Aplastic anemia, Prominent nasal bridge, Broad nasal tip, Lymphoma, Wide nasal...	OMIM:223370
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa...	ORPHA:1912
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Achondrogenesis, Type Ia	Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic sacrum, Hypoplastic scap...	OMIM:200600
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Posteriorly rotated ears, Abnorm...	OMIM:618774
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Macrotia, Wide nas...	OMIM:613026
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v...	OMIM:615777
Stt3B-Cdg	Intrauterine growth retardation, Thrombocytopenia, Cryptorchidism	ORPHA:370924
Congenital Factor Xiii Deficiency	Myeloid leukemia, Epistaxis	ORPHA:331
Tetanus	Hypertension, Tachycardia, Stiff neck, Bradycardia	ORPHA:3299
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Noonan Syndrome 4	Pectus excavatum of inferior sternum, Short stature, Short neck, Pectus excavatum, Cryptorchidism...	OMIM:610733
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Xq28 (MECP2) duplication	Macrotia, Failure to thrive, Depressed nasal bridge	DECIPHER:45
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh...	ORPHA:958
Holoprosencephaly 5	Depressed nasal bridge, Macrotia, Anteverted nares, Synophrys	OMIM:609637
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Moyamoya Disease 6 With Or Without Achalasia	Impotence, Thrombocytopenia	OMIM:615750
Intellectual Developmental Disorder, X-Linked 93	Macrotia, Cupped ear	OMIM:300659
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory tract infections...	OMIM:252920
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Lymphadenopathy	OMIM:611762
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Glioma, Choanal atresia, Rhabdomyosarcoma, Long nose, Medulloblastom...	OMIM:251260
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Methemoglobinemia, Polycythemia	OMIM:250800
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Cartilage-Hair Hypoplasia	Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, P...	ORPHA:175
Ring Chromosome 22 Syndrome	Bulbous nose, Neurofibroma, Wide nasal base, Macrotia, Toenail dysplasia, Thick eyebrow	ORPHA:1446
Congenital Disorder Of Glycosylation, Type Ix	Intrauterine growth retardation, Thrombocytopenia, Cryptorchidism	OMIM:615597
Hypotonia-Cystinuria Syndrome	Failure to thrive, Posteriorly rotated ears, Depressed nasal bridge, Long eyelashes, Macrotia	OMIM:606407
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Posteriorly rotated ears, Prominent nasal bridge, Macrotia, Sensorineural hearing ...	OMIM:212066
Three M Syndrome 2	Scapular winging, Severe short stature, Lumbar hyperlordosis, Short stature, Hyperlordosis, Short...	OMIM:612921
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Hemochromatosis, Type 2A	Splenomegaly, Hepatomegaly, Cirrhosis	OMIM:602390
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca...	OMIM:613458
Shwachman-Diamond Syndrome 2	Normocytic anemia, Short stature, Anterior rib cupping, Thrombocytopenia, Metaphyseal widening, N...	OMIM:617941
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Brittle hair, Anteverted nares, Failure to thrive in infancy, ...	ORPHA:1340
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Gm1-Gangliosidosis, Type I	Severe short stature, Thickened ribs, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes,...	OMIM:230500
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
Fanconi Anemia, Complementation Group R	Absent thumb, Growth delay, Anemia, Bone marrow hypocellularity, Scoliosis, Radial dysplasia	OMIM:617244
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Cooper-Jabs Syndrome	Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi...	ORPHA:1488
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171300
Galactose Mutarotase Deficiency	Hepatomegaly, Decreased liver function, Cholestasis	ORPHA:570422
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Bulbous nose, Macrotia, Protruding ear, Low-set ears, Overfolded helix, Failure...	ORPHA:481152
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Wide nose, Splenomegaly, Synophrys, Low anterior hairline, Wide nasal bridge, Hirsu...	OMIM:617303
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Failure to thrive in infancy	ORPHA:264675
Squalene Synthase Deficiency	Depressed nasal bridge, Failure to thrive in infancy, Posteriorly rotated ears, Abnormality of ha...	OMIM:618156
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Neurofibromatosis Type 1	Abnormal hair quantity, Astrocytoma, Hearing impairment, Hearing abnormality, Chronic myelogenous...	ORPHA:636
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Disproportionat...	ORPHA:583
Vici Syndrome	Lymphopenia, Wide nose, Hypopigmentation of hair, Left ventricular hypertrophy, Depressed nasal b...	OMIM:242840
Lymphangiectasia, Intestinal	Lymphopenia, Prominent floating ribs	OMIM:152800
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Broad nasal tip, Overweight, Recurrent upper respiratory tract infections, Abnormality of the ear...	ORPHA:391372
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
X-Linked Intellectual Disability, Cilliers Type	Macrotia, Failure to thrive, Prominent nasal bridge, Small nail	ORPHA:163971
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Macrotia, Low anterior hairline, Wide nasal bridge	OMIM:218000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Monosomy 18P	Alopecia, Wide nasal bridge, Protruding ear, Low posterior hairline, Abnormal antihelix morpholog...	ORPHA:1598
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Eosinophilia	ORPHA:26137
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Portal fibrosis, Hepatic fibrosis, Cirr...	ORPHA:369
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated...	OMIM:609942
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocyto...	OMIM:603585
Grant Syndrome	Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pelvic girdle bone mor...	ORPHA:2097
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Abnormal pinna morphology, Short nose, Macrotia, Profound hearing impa...	ORPHA:3078
Trichohepatoenteric Syndrome 1	Brittle hair, Depressed nasal ridge, Hepatic fibrosis, Sparse hair, Hepatomegaly, Anteverted nare...	OMIM:222470
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Barrel-shaped chest, Recurrent fractures, Multiple prenatal fractures, ...	OMIM:610915
Histidinuria Due To A Renal Tubular Defect	Sensorineural hearing impairment, Macrotia, Wide nasal bridge	OMIM:235830
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Facial palsy, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal ...	ORPHA:3068
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Anteverted nares, Posteriorly rotated ears, Fine hair, Low-set ears, ...	OMIM:615278
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Highly arched eyebrow, Synophrys, Mac...	ORPHA:363528
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Preeclampsia	Intrauterine growth retardation, Thrombocytopenia	ORPHA:275555
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antihelix morphology, L...	ORPHA:79113
Histidinuria-Renal Tubular Defect Syndrome	Sensorineural hearing impairment, Macrotia, Wide nasal bridge	ORPHA:2158
Transaldolase Deficiency	Pancytopenia, Short neck, Splenomegaly, Hepatosplenomegaly, Anemia, Intrauterine growth retardati...	OMIM:606003
Syngap1-Related Developmental And Epileptic Encephalopathy	Anteverted ears, Macrotia	ORPHA:544254
Ververi-Brady Syndrome	Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Cupped ear, Low-set ears, Macrotia	OMIM:617982
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Coarse hair, Basal cell carcinoma, Sparse hair, Tr...	OMIM:301845
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb...	OMIM:619636
Dermatoleukodystrophy	Macrotia, Prominent nose	OMIM:221790
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Macrotia, Protruding ear	OMIM:617481
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,...	OMIM:258360
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, Bulbous nose, Synophrys, L...	OMIM:618828
Caspase 8 Deficiency	Splenomegaly, Failure to thrive, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:607271
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Congen...	ORPHA:182050
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears	OMIM:618506
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopeni...	OMIM:613179
Cat-Eye Syndrome	Intrauterine growth retardation, Abnormal rib morphology, Short stature, Hip dysplasia	ORPHA:195
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Limited mobility of proximal interphalangeal joint, G...	OMIM:222300
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Cachexia, Visceral angiomatosis, Lym...	ORPHA:109
Craniofrontonasal Dysplasia	Abnormality of hair texture, Widow's peak, Sensorineural hearing impairment, Depressed nasal ridg...	ORPHA:1520
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Optic Atrophy 11	Splenomegaly, Macrotia, Hearing impairment	OMIM:617302
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair, Protruding ear	OMIM:278200
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Progressive sensorineural hearin...	OMIM:607115
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ...	ORPHA:85167
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Short nose	ORPHA:2370
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Greenberg Dysplasia	Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c...	OMIM:215140
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Abnormality of the stapes, Failure to thrive in infancy, Nephroblastoma,...	ORPHA:798
Kabuki Syndrome 2	Highly arched eyebrow, Broad nasal tip, Hearing impairment, Cupped ear, Depressed nasal tip, Prot...	OMIM:300867
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Axial Mesodermal Dysplasia Spectrum	Short stature, Short neck, Missing ribs, Abnormality of the spleen, Abnormal rib morphology, Abno...	ORPHA:1834
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Macrotia, Frontal upsweep of hair	OMIM:619797
Netherton Syndrome	Sparse scalp hair, Brittle hair, Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Hypereosi...	OMIM:256500
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Short stature, Postnatal growth retardation, Metaphyseal sclerosis, Thr...	OMIM:612199
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Small for gestational age, Posteriorly rotated ears, Cardiomegaly, Wide nasal b...	OMIM:616897
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Tachycardia, Increased body weight, Large for gestational age	ORPHA:263455
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Short stature, Rocker bottom foot, Coxa valga, Thrombocytopenia, Postaxial h...	OMIM:301056
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Lissencephaly 6 With Microcephaly	Bulbous nose, Macrotia, Anteverted nares, Synophrys	OMIM:616212
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Wide nasal bridge, Protruding ear, Dystrophic toenail...	ORPHA:3253
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Prominent nose,...	OMIM:618316
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Wide nasal bridge, Protruding ear, Hypoplastic nasal tip, Recurrent otitis media, Severe failure ...	ORPHA:3304
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Increased mean p...	ORPHA:84064
Abruzzo-Erickson Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Macrotia	ORPHA:921
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Growth delay, Bone marrow hypocellularity, Testicular atrophy, Thrombocytopenia	OMIM:613987
Diamond-Blackfan Anemia 6	Macrocytic anemia, Short thumb, Growth delay, Persistence of hemoglobin F, Increased mean corpusc...	OMIM:612561
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Prominent nasal bridge, Highly arched eyebrow, Broad nasal tip...	ORPHA:3132
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears...	OMIM:300260
Chromosome 3Q13.31 Deletion Syndrome	Macrotia, Low-set ears	OMIM:615433
Ssr4-Cdg	Failure to thrive, Macrotia	ORPHA:370927
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Anteverted nares, Depressed nasal ...	ORPHA:85212
Braddock-Carey Syndrome 2	Clinodactyly, Thrombocytopenia	OMIM:619981
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p...	ORPHA:97360
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat...	ORPHA:2911
Trichothiodystrophy 8, Nonphotosensitive	Prominent nose, Sparse eyebrow, Head titubation, Protruding ear, Sparse hair, Woolly hair, Tricho...	OMIM:619691
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Protruding ear, Anemia, Coarse hair, Hori...	OMIM:620072
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo...	OMIM:252600
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Quebec Platelet Disorder	Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,...	OMIM:208540
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Abnormality of thrombocytes, Anemia	ORPHA:3204
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia	OMIM:618398
Pterygium Colli, Isolated	Short nose, Protruding ear, Low posterior hairline	OMIM:177990
Cutis Laxa, Autosomal Recessive, Type Iiia	Failure to thrive, Narrow nasal ridge, Low-set ears, Sparse hair, Macrotia	OMIM:219150
Achalasia-Microcephaly Syndrome	Macrotia, Prominent nose	ORPHA:929
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Ellis Van Creveld Syndrome	Abnormal hair quantity, Abnormal fingernail morphology, Hypoplastic toenails, Abnormal hair morph...	ORPHA:289
Bent Bone Dysplasia Syndrome 2	Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat...	OMIM:620076
Weiss-Kruszka Syndrome	Anteverted nares, Horizontal crus of helix, Highly arched eyebrow, Hearing impairment, Cupped ear...	OMIM:618619
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Acetabular dysplasia, Anemia	OMIM:618313
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Hepatosplenom...	OMIM:608013
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scoliosis, Camptodacty...	ORPHA:88628
Sotos Syndrome	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Sparse eyebr...	OMIM:117550
Gillessen-Kaesbach-Nishimura Syndrome	Posteriorly rotated ears, Underdeveloped nasal alae, Frontotemporal hypertrichosis, Large fleshy ...	OMIM:263210
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Low-set ears, Macrotia, Depressed nasal bridge, Highly arched eyebrow	OMIM:618142
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Sparse eyelashes, Sparse eyebrow, Abnormal tragus morphology, ...	ORPHA:66625
Myotonic Dystrophy 2	Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction	OMIM:602668
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Postnatal growth retardation, Kyphosis, Coxa valga, Reduced alpha...	OMIM:301040
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Diaphyseal sclerosis, Hepatosplenom...	OMIM:259710
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A...	ORPHA:1120
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Large fleshy ears, Overfolded helix, Low-set ears	OMIM:619092
Ogden Syndrome	Underdeveloped nasal alae, Fine hair, Short columella, Low-set ears, Macrotia, Enlarged naris, Ap...	ORPHA:276432
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Thick hair, Abnormal hair pattern, Long eyelashes, Short nose, Generalized h...	ORPHA:1514
17P13.3 Microduplication Syndrome	Low-set ears, Wide nose, Short nose	ORPHA:217385
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa...	OMIM:194190
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Depressed nasal bridge, Highly arched eyebrow, Large for gestational age, Uplifted ...	OMIM:280000
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils	ORPHA:93476
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Chime Syndrome	Depressed nasal ridge, Fine hair, Acute leukemia, Sparse hair, Abnormality of the outer ear, Hear...	ORPHA:3474
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Pear-shaped nose, Protruding ...	OMIM:190350
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Macrotia	ORPHA:1154
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp...	ORPHA:158061
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the pancreas, Visceral ...	ORPHA:1555
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Wide nose, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma,...	ORPHA:1052
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Obesity, Short columella, Microtia, Low-set ears, Short...	ORPHA:171839
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Low-set ears, Recurr...	OMIM:613604
Smith-Kingsmore Syndrome	Curly hair, Depressed nasal bridge, Large for gestational age, Short nose, Thrombocytopenia	OMIM:616638
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern, Underdeveloped nasal alae, Abnormality of the pancreas, Sensorin...	ORPHA:2315
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal sacroiliac joint morphology, Abnormal epiphysis morphology, Scoliosis, Abnormal metaphys...	ORPHA:324964
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hearing impairment, Splenomegaly, Synophrys, Recurrent upper respiratory tract infe...	OMIM:252930
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep...	OMIM:618805
Simple Cryoglobulinemia	Viral hepatitis, B-cell lymphoma, Chronic lymphatic leukemia, Weight loss, Multiple myeloma, Mono...	ORPHA:91139
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hepatic failure, Hepatic steatosis	OMIM:617872
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Depressed nasal bridge, Anteverted nares, Slow-growing hair, Posterio...	OMIM:115150
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Mucopolysaccharidosis, Type Ivb	Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tubular bones, Hypoplasia of the...	OMIM:253010
Dentici-Novelli Neurodevelopmental Syndrome	Macrotia, Prominent nasal bridge, Hearing impairment	OMIM:619877
X-Linked Intellectual Disability, Shashi Type	Macrotia, Obesity	ORPHA:85286
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Pectus excavatum, Abnormal fo...	ORPHA:3042
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Even-Plus Syndrome	Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, Microtia, Sparse hair, ...	OMIM:616854
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Short stature, Postnatal growth retardat...	ORPHA:261323
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver	ORPHA:234
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia	OMIM:270300
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Bulbous nose, Prominent eyelashes, Low-set ears, Hypoplasia of the antihelix, S...	OMIM:616420
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia, Cryptorchidism	OMIM:620365
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Elsahy-Waters Syndrome	Pectus excavatum, Cervical C2/C3 vertebral fusion, Increased cup-to-disc ratio	OMIM:211380
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Alopecia, Prominent nose, Abnormal antihelix morphology, Abnor...	ORPHA:1005
Copper Deficiency, Familial Benign	Curly hair, Failure to thrive, Early balding, Anemia	OMIM:121270
Tularemia	Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess	ORPHA:3392
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T...	OMIM:613848
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Lymp...	OMIM:614700
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,...	ORPHA:93324
Chromosome 6Q11-Q14 Deletion Syndrome	Prominent nasal bridge, Broad nasal tip, Low anterior hairline, Low-set ears, Short nose	OMIM:613544
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of ...	ORPHA:73230
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab...	ORPHA:90652
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Acromicric Dysplasia	Abnormal eyebrow morphology, Anteverted nares, Bulbous nose, Long eyelashes, Short nose	ORPHA:969
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Short thumb, Hypoplasia of the radius,...	ORPHA:3258
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Cryptococcosis	Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, Cirrhosis, Abnormality of ...	ORPHA:1546
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Prominent nasal bridge, Macrotia, Recurrent upper respiratory tract infections, Protruding ear, P...	OMIM:300534
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair, Anteverted nares, Wide nasal bridge, Failure to thrive	ORPHA:50812
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Depressed nasal bridge, Hearing imp...	ORPHA:163956
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Bulbous nose, Macrotia, Depressed nasal bridge, Low-set ears	OMIM:616789
Trisomy 20P	Low-set, posteriorly rotated ears, Anteverted nares, Thick hair, Highly arched eyebrow, Low anter...	ORPHA:261318
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi...	ORPHA:444077
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Hearing impairment, Abnormal hair whorl, Small nail, Low-se...	OMIM:614261
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Macrotia, Depressed nasal bridge, Low-set ears	ORPHA:314575
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ...	ORPHA:2970
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Ascites, Portal vein hypoplasia	OMIM:619433
16P12.1P12.3 Triplication Syndrome	Tachycardia, Failure to thrive	ORPHA:485405
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Broad nasal tip, Hepatosplenomegaly, Low-set ears, Macrotia, Hirsutism, H...	ORPHA:79255
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Mevalonic Aciduria	Normocytic hypoplastic anemia, Short stature, Kyphoscoliosis, Fluctuating splenomegaly, Thrombocy...	OMIM:610377
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Short ...	ORPHA:210548
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Testicula...	OMIM:618165
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Underdeveloped nasal alae, Abnormal hai...	ORPHA:894
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Anemia, Radial deviation of finger	OMIM:165660
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Leukodystrophy, Hypomyelinating, 24	Severe short stature, B lymphocytopenia	OMIM:619851
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Peho-Like Syndrome	Short nose	OMIM:617507
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac...	ORPHA:2167
Jaberi-Elahi Syndrome	Brittle hair, Depressed nasal bridge, Sparse eyelashes, Sparse eyebrow, Fine hair, Protruding ear...	OMIM:617988
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macrotia	OMIM:300886
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Holoprosencephaly	Aplasia/Hypoplasia involving the nose, Failure to thrive in infancy, Choanal atresia, Anteverted ...	ORPHA:2162
Propionic Acidemia	Pancytopenia, Short stature, Anemia, Neutropenia, Thrombocytopenia	OMIM:606054
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal...	OMIM:227330
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Kyphosis, Cryptorchidism, Hip dysplasia, Increased mean corpuscular ...	ORPHA:261250
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Short stature, Avascular necrosis of the capital femoral epiphysis...	OMIM:613990
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hip disloca...	OMIM:610443
Pyknoachondrogenesis	Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif...	ORPHA:3003
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Short stature, Anemia, Bone marrow hypocellularity, Intrauterine g...	ORPHA:3322
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced platelet aggregation, Menorrha...	OMIM:614074
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti...	ORPHA:3261
Developmental And Epileptic Encephalopathy 110	Macrotia, Low-set ears	OMIM:620149
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Donohue Syndrome	Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Nail dysplasia, Low-set ears, S...	OMIM:246200
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Bulbous nose, Leukonychia, Protruding ear, Sparse hair, Macroti...	ORPHA:77258
Degcags Syndrome	Prominent nose, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron def...	OMIM:619488
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	High-frequency sensorineural hearing impairment, Sparse scalp hair, Bulbous nose, Fine hair, Low-...	ORPHA:2324
Lathosterolosis	Abnormal thoracic spine morphology, Toe syndactyly, Postaxial hand polydactyly, Anisopoikilocytos...	ORPHA:46059
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Coxa valga, Vertebral arch anomaly, Abnormal diaphysis morpholog...	ORPHA:85184
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Hypertension, Bradyc...	OMIM:614653
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Megaloblastic anemia, Low-set ears, Neutropenia, Macrotia, Thrombocytopenia	OMIM:277400
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Hi...	ORPHA:1327
Zttk Syndrome	Kyphosis, Rib fusion, Hemivertebrae, Small hand, Short foot, Cervical ribs, Scoliosis	OMIM:617140
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai...	OMIM:300952
Cleidocranial Dysplasia	Hypoplastic scapulae, Short stature, Down-sloping shoulders, Tapered finger, Abnormal thumb morph...	ORPHA:1452
Distal Monosomy 7Q36	Bulbous nose, Macrotia	ORPHA:1636
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Intrauterine growth retardation, Slender long bone, Thrombocytopenia	ORPHA:96181
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Recurrent fractures, Optic atrophy, Osteolysis, Hypertension	ORPHA:1764
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Optic atrophy, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomy...	OMIM:616878
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Tapered finger, Thrombocytopenia, C...	OMIM:620005
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Sparse scalp hair, Macrotia, Wide nasal bridge	ORPHA:66629
Baller-Gerold Syndrome	Carpal bone aplasia, Hypoplasia of the ulna, Short humerus, Absent thumb, Absent radius, Aphalang...	OMIM:218600
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Fair hair, Posteriorly rotated ears, Decreased CD4:...	OMIM:608233
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Conductive hearing impairment, Short nose, Depressed nasal bridge, Low-set ears	OMIM:616910
Sandifer Syndrome	Hematemesis, Abnormal posturing, Anemia	ORPHA:71272
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Recurrent ph...	ORPHA:829
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Abnormal periph...	ORPHA:168563
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Sparse scalp hair, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Underdevelope...	OMIM:615866
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Protruding ear	ORPHA:1495
Fetal Trimethadione Syndrome	Depressed nasal bridge, Synophrys, Overfolded helix, Abnormal helix morphology, Low-set ears, Sho...	ORPHA:1913
Chromosome 2P16.1-P15 Deletion Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impairment, Recurrent upp...	OMIM:612513
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
2Q32Q33 Microdeletion Syndrome	Anteverted nares, Prominent nasal bridge, Fine hair, Low-set ears, Sparse hair, Convex nasal ridge	ORPHA:251019
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Melanocytic Nevus Syndrome, Congenital	Anteverted nares, Narrow nasal ridge, Broad nasal tip, Cutaneous melanoma, Short nose	OMIM:137550
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Depressed nasal bridge, Glioma, Cerebellar glioma, Rha...	ORPHA:97685
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Slender nose, Wide nasal bridge, Short columella, Low-set ears, Macrotia, Enlarged naris	ORPHA:562528
Graft Versus Host Disease	Dupuytren contracture, Tachycardia, Limited elbow movement, Limited shoulder movement, Arthritis,...	ORPHA:39812
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia	OMIM:185070
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Nail dystrop...	ORPHA:2890
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Underdeveloped nasal alae, Absent eyelashes, Small nail, Low-set ears, ...	ORPHA:166035
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ...	ORPHA:1529
Fryns Microphthalmia Syndrome	Macrotia, Abnormality of the ear	OMIM:600776
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ...	OMIM:617895
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Macrotia	ORPHA:457240
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Overlapping fingers, T lymphocytopenia, B lymphocytopenia, Intrauterine growth retardation, Abnor...	OMIM:615966
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str...	ORPHA:1572
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Depressed nasal bridge, Highly arched eyebrow, Macrotia, Low anterior hairline, Low posterior hai...	OMIM:615802
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Depressed nasal bridge, S...	OMIM:268400
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v...	ORPHA:1517
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Hypopi...	OMIM:214500
Crandall Syndrome	Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Pili torti, Sparse body hair...	ORPHA:202
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Depressed nasal bridge, Prominent nasal bridge, Cardiomegaly, Bulbous nose, Overfolded helix, Mac...	ORPHA:324410
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit...	ORPHA:90368
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Lambotte Syndrome	Atresia of the external auditory canal, Macrotia, Convex nasal ridge	OMIM:245552
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn...	ORPHA:1716
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Wide nose, Cardiomegaly, Synophrys, Low posterior hairline, Abnormal columella...	ORPHA:2463
Von Willebrand Disease, Type 3	Menorrhagia, Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Macrotia, Failure to thrive, Small for gestational age, Prominent nose	OMIM:620194
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Anteverted nares, Wide nasal bridge, Low-set ears, Facial hirs...	OMIM:619383
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Failure to thrive, Hepatomegaly	OMIM:228000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu...	ORPHA:300298
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Baraitser-Winter Syndrome 1	Anteverted nares, Highly arched eyebrow, Sensorineural hearing impairment, Wide nasal bridge, Ove...	OMIM:243310
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Short stature, Anemia, Neutropenia, Thrombocytopenia	ORPHA:47
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge	OMIM:200130
Trisomy 9P	Abnormal nasal morphology, Hypoplastic toenails, Protruding ear, Fingernail dysplasia, Macrotia, ...	ORPHA:236
Takenouchi-Kosaki Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Increased mean platelet volume, Cry...	OMIM:616737
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Abnormal rib morphology, Disproportionate short-limb short statu...	ORPHA:2772
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Anteverted nares, Thickened helices, Broad nasal tip, Bulbous nose, Synophrys, Depressed nasal ti...	OMIM:300966
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Sensorineural hearing impai...	ORPHA:1451
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Optic atrophy, Abnormal rib m...	ORPHA:3301
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno...	OMIM:216360
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Depressed nasal bridge, Prominent nasal bridge, Hypoplastic nipples, Hemangioma, Macrotia	OMIM:618505
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Wide nasal bridge, Fine hair, Macrotia	ORPHA:3079
Alg8-Cdg	Anemia, Camptodactyly, Intrauterine growth retardation, Thrombocytopenia, Brachydactyly	ORPHA:79325
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Noonan Syndrome 7	Curly hair, Depressed nasal bridge, Large for gestational age, Low posterior hairline, Large earl...	OMIM:613706
Emanuel Syndrome	Failure to thrive, Hearing impairment, Low-set ears, Recurrent sinusitis, Recurrent otitis media,...	OMIM:609029
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Cog4-Cdg	Growth delay, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Anteverted nares, Abnormality of hair texture, Coarse hair, Low-set ears, Short nos...	OMIM:219200
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Leigh Syndrome	Alopecia, Macrotia, Sensorineural hearing impairment, Neutropenia, Frontal hirsutism, Failure to ...	ORPHA:506
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Depressed nasal bridge, Macrotia, Hepatic fibrosis, Thrombocytosis, Failure to thri...	OMIM:212065
Monosomy 18Q	Astrocytoma, Depressed nasal bridge, Prominent nose, Bulbous nose, Macrotia, Low anterior hairlin...	ORPHA:1600
Hawkinsinuria	Sparse hair, Failure to thrive, Fine hair	ORPHA:2118
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Posteriorly rotated ears, Nail dystrophy, Highly arched eyebrow	OMIM:300887
Noonan Syndrome 14	Curly hair, Posteriorly rotated ears, Prominent nasal bridge, Sparse eyebrow, Low posterior hairl...	OMIM:619745
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib...	ORPHA:1318
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Supernumerary ribs, Steroid-re...	OMIM:613309
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Depressed nasal bridge, Anteverted nares, Curly eyelashes, Multiple rows of eyelashes...	ORPHA:163654
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Split hand, Abnormal rib morphology, Intrauterine growth retard...	ORPHA:2145
Pseudo-Torch Syndrome 2	Thrombocytopenia, Thin ribs	OMIM:617397
Cole-Carpenter Syndrome 2	Short stature, Postnatal growth retardation, Kyphosis, Pectus excavatum, Thin ribs, Platyspondyly...	OMIM:616294
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand...	ORPHA:3103
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Absent eyebrow, Dry hair, Sparse scalp hair, Anteverted nares, Posteriorly r...	OMIM:601358
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Neutropenia, Short nose, Failure to thrive, Hirsutism	OMIM:618005
Fragile X Syndrome	Macrotia	OMIM:300624
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Micro Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Short nose, Macrotia, Gen...	ORPHA:2510
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm...	OMIM:614744
Ritscher-Schinzel Syndrome 4	Curly hair, Macrotia, Wide nasal bridge	OMIM:619435
Multiple Sulfatase Deficiency	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Splenomegaly, Sensorineural hearing impai...	ORPHA:585
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Low posterior hairline, Short nose	OMIM:611936
Recon Progeroid Syndrome	Arachnodactyly, Short stature, Proximal placement of thumb, Thrombocytopenia, Growth delay, Long ...	OMIM:620370
Chromosome 18Q Deletion Syndrome	Depressed nasal bridge, Failure to thrive in infancy, Prominent nose, Sensorineural hearing impai...	OMIM:601808
Chromosome 18P Deletion Syndrome	Anteverted nares, Small for gestational age, Posteriorly rotated ears, Depressed nasal ridge, Wid...	OMIM:146390
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Kyphosis, Cryptorchidism, Increased femoral anteversion, Scol...	OMIM:619005
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Depressed nasal bridge, Sparse eyelashes, Low anterior hairline, Wide nasal bridge,...	OMIM:617392
Monosomy 22	Low-set, posteriorly rotated ears, Wide nose, Aplasia of the thymus, Synophrys, Schwannoma, Hypoc...	ORPHA:96123
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Depressed nasal bridge, Posteriorly rotated ears, Prominent crus of helix, Synophrys, Widow's pea...	OMIM:617804
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Distal Duplication 6P	Abnormal hair quantity, Prominent nasal bridge, Abnormal eyelash morphology, Aplasia/Hypoplasia o...	ORPHA:1745
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal stenosis, Short foo...	ORPHA:1606
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Fine hair, Long eyelashes, High anterior hairline, Narrow nose	ORPHA:231137
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage	ORPHA:335
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Warburg Micro Syndrome 3	Short nose, Macrotia, Low anterior hairline, Hypertrichosis	OMIM:614222
Bainbridge-Ropers Syndrome	Thick eyebrow, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped n...	OMIM:615485
Intellectual Developmental Disorder, Autosomal Dominant 58	Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Hypoplastic fifth toenail, Macrotia	OMIM:618106
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Wide nose, Splenomegaly, Jaundice, Sensorineural hearing impairment, Low anterior h...	OMIM:608779
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Costello Syndrome	Deep-set nails, Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal fingernail mo...	ORPHA:3071
Say Syndrome	Macrotia	OMIM:181180
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Short thumb, Aplastic anemia, Short neck	OMIM:610832
Sialuria	Hepatomegaly, Splenomegaly, Synophrys, Wide nasal bridge, Low posterior hairline, Hypoplastic nip...	OMIM:269921
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Dec...	OMIM:300749
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Microtia, Short nose, Hearing impairment	ORPHA:1914
Short Syndrome	Small for gestational age, Sensorineural hearing impairment, Wide nasal bridge, Low-set ears, Mac...	OMIM:269880
Pontocerebellar Hypoplasia, Type 7	Broad nasal tip, Synophrys, Wide nasal bridge, Low-set ears, Macrotia, Hirsutism	OMIM:614969
Osteogenesis Imperfecta	Cervical kyphosis, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of the ver...	ORPHA:666
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri...	OMIM:271665
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Anteverted nares, Acanthocytosis, Wide nasal bridge, Prominent antihelix, Prom...	OMIM:618947
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Abnormal hair pattern, Synophrys, Low posterior hairline, Micr...	ORPHA:2983
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel...	ORPHA:96061
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Obesity, Red hair, Short nose, Fair hair	OMIM:614613
Desmosterolosis	Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormality of the nose, Splenomegaly,...	ORPHA:35107
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Sensorineural hearing impairment, Schistocytosi...	OMIM:616084
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Postaxial polydactyly, Splenomegaly, Growth delay, Hip dysplasia, Intrauterine grow...	OMIM:614576
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Aicardi-Goutières Syndrome	Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepa...	ORPHA:51
Majeed Syndrome	Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi...	ORPHA:77297
Double Outlet Right Ventricle	Tachycardia, Failure to thrive, Heart murmur, Pulmonic stenosis	ORPHA:3426
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Failure to thrive, La...	OMIM:617388
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Emanuel Syndrome	Failure to thrive, Hearing impairment, Recurrent otitis media, Low-set ears, Severe hearing impai...	ORPHA:96170
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macrotia, Obesity	OMIM:300055
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Broad eyebrow, Neutrophilia, Small for gestational age, Depressed nasal bridge, Mic...	ORPHA:99843
Alagille Syndrome	Hypoplasia of the ulna, Cryptorchidism, Abnormal rib morphology, Abnormal form of the vertebral b...	ORPHA:52
Codas Syndrome	Depressed nasal bridge, Anteverted nares, Extrahepatic biliary duct atresia, Sensorineural hearin...	ORPHA:1458
Hellp Syndrome	Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathi...	ORPHA:244242
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Noonan Syndrome 5	Curly hair, Depressed nasal bridge, Large for gestational age, Sparse eyebrow, Fine hair, Small n...	OMIM:611553
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Small nail, Low-set ears, Sparse hai...	OMIM:250410
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Yellow Nail Syndrome	Renal neoplasm, Abnormal fingernail morphology, Biliary tract neoplasm, Yellow nails, Neoplasm of...	ORPHA:662
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver...	OMIM:271640
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L...	OMIM:253200
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Synophrys, Short...	ORPHA:284169
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrotia, Slender build, Uplifted earlobe	ORPHA:364028
Tolchin-Le Caignec Syndrome	Osteochondroma, Abnormal vestibular function, Prominent nose, Sensorineural hearing impairment, H...	OMIM:618971
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Huntington Disease-Like 1	Abnormal posturing, Weight loss	ORPHA:157941
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Short neck, Postnatal growth retardation, Short thor...	ORPHA:168577
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica...	ORPHA:51608
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Synophrys, Broad medial eyeb...	OMIM:619426
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Long nose, Macrotia, Thick eyebrow, Decreased body weight	OMIM:300243
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Underdeveloped nasal alae, Prominent nose, Sensorineural hearing impairment, Aplasia/Hypoplasia o...	ORPHA:2637
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Sparse eyebrow, Wide nasal bridge, Stenosis of the exte...	OMIM:249620
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Cryptorchidism, Abnormal rib morphology, Abnormal pelvic gi...	ORPHA:3378
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Aplasia of the thymus, Broad nasal tip, Cupped ear, Low anterior hairline...	OMIM:618223
Microhydranencephaly	Macrotia, Prominent nasal bridge	OMIM:605013
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Long eyelashes, Anteverted nares, Wide nasal bridge	OMIM:618577
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Short neck, Missing ribs,...	ORPHA:2308
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Imbalanced hemoglobin synthesis, Abn...	ORPHA:330015
Immunodeficiency 40	Growth delay, T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect, Optic disc coloboma, Aganglionic megacolon	ORPHA:959
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Joint stiffness, Conge...	ORPHA:505248
Tonne-Kalscheuer Syndrome	Prominent nasal bridge, Concave nail, Prominent nose, Wide nasal bridge, Fine hair, Small nail, C...	OMIM:300978
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Eosinophilic Gastroenteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Weight loss, Ascites, Anemia	ORPHA:2070
Periventricular Nodular Heterotopia 7	Short nose, Failure to thrive, Anteverted nares, Sensorineural hearing impairment	OMIM:617201
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, Jaundice, Lymp...	ORPHA:276
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Brittle hair, Abnormal hair morphology, Generalized hirsutism,...	ORPHA:2963
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Large earlobe, Short nose, Wide nasal bridge, Broad nasal tip	OMIM:615716
Warburg Micro Syndrome 2	Prominent nasal bridge, Asymmetry of the ears, Low anterior hairline, Short nose, Macrotia	OMIM:614225
Cockayne Syndrome Type 1	Hepatomegaly, Failure to thrive, Absent brainstem auditory responses, Macrotia, Anemia, Hearing i...	ORPHA:90321
Phelan-Mcdermid Syndrome	Hypoplastic toenails, Bulbous nose, Wide nasal bridge, Protruding ear, Concave nasal ridge, Long ...	OMIM:606232
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Long eyelashes, Low-set ears, Short nose, Macrotia	ORPHA:357001
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Posteriorly rotated ears, Low-set ears	ORPHA:163961
Ogden Syndrome	Cardiomegaly, Microvesicular hepatic steatosis, Protruding ear, Iron deficiency anemia, Macrovesi...	OMIM:300855
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Obesity, Low-set ears, Short nose	OMIM:618430
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Hypoplastic thumbnail, Hypoplastic toenails, Hypoplastic fifth fingernail, Abse...	OMIM:619356
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Broad ribs, Short long bone,...	OMIM:617022
Hurler Syndrome	Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Splenomegaly, A...	ORPHA:93473
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Beaded ribs, Bowing of the legs, Enlargem...	ORPHA:89936
X-Linked Intellectual Disability, Seemanova Type	Macrotia, Small for gestational age	ORPHA:85323
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Osteomyelitis, Myocarditis, Capillary leak, Arthritis, Hypotension, Septic ar...	ORPHA:36234
Tetrasomy 12P	Anteverted nares, Cachexia, Sparse eyebrow, Sparse hair, Short nose	ORPHA:884
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Intellectual Developmental Disorder, X-Linked 21	Short nose, Uplifted earlobe, Synophrys	OMIM:300143
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc...	OMIM:613404
Lysinuric Protein Intolerance	Hepatomegaly, Thrombocytopenia, Splenomegaly, Fine hair, Truncal obesity, Leukopenia, Hemophagocy...	OMIM:222700
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Incontinentia Pigmenti	Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co...	OMIM:308300
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ...	ORPHA:98870
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Bone marrow hypocellularity, Neutropeni...	OMIM:613989
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Coar...	ORPHA:75389
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Short nose, Thick eyebrow, Hearing impairment	OMIM:619736
Proteus Syndrome	Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, Capillary hemangioma, T...	ORPHA:744
Werner Syndrome	Sparse scalp hair, Renal neoplasm, Acral lentiginous melanoma, Abnormal hair whorl, Breast carcin...	ORPHA:902
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Vertigo, Hepatosplenomegaly, Lymphadenop...	OMIM:260920
Donnai-Barrow Syndrome	Posteriorly rotated ears, Depressed nasal bridge, Widow's peak, Sensorineural hearing impairment,...	ORPHA:2143
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Contracture of the distal interphalangeal joi...	OMIM:617072
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Macrotia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone ...	ORPHA:2785
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukocytosis, Spleno...	OMIM:259720
Camurati-Engelmann Disease	Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,...	ORPHA:1328
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Sparse axillary hair, Microcytic anemia, Cardiomegaly, Splenomegaly, Prominent nose...	OMIM:256040
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Large for gestational age, Sensorineural hearing impairment, Protruding ea...	OMIM:617107
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Depressed nasal bridge, Posteriorly rotated ears, Long eyelashes, ...	OMIM:619833
Radio-Renal Syndrome	Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck	ORPHA:3015
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split...	OMIM:200980
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose	OMIM:610015
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Duane Retraction Syndrome	Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ...	ORPHA:233
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Carvajal Syndrome	Woolly hair	ORPHA:65282
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Joint stiffness, Supraventricular arrhythmia, Ac...	ORPHA:98855
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Thick eyebrow, Depressed nasal bridge, Anteverted nares, Splenomegaly, Synophrys, R...	OMIM:252940
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Gomez-Lopez-Hernandez Syndrome	Alopecia, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose	OMIM:601853
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar...	OMIM:614921
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Short stature, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridg...	OMIM:269150
Meckel Syndrome, Type 8	Low-set ears, Short nose, Depressed nasal ridge, Enlarged kidney	OMIM:613885
Hall-Riggs Syndrome	Anteverted nares, Thick hair, Slow-growing hair, Prominent nose, Wide nasal bridge, Coarse hair, ...	ORPHA:2107
Aspergillosis	Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, Abnormality of the vertebra...	ORPHA:1163
Atelis Syndrome 2	Sacral dimple, Kyphosis, Anemia, Clinodactyly, Thrombocytopenia	OMIM:620185
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia	ORPHA:169090
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Mild postnatal grow...	ORPHA:85408
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight	ORPHA:90051
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Short nose, Anteverted ears, Hirsutism	OMIM:618087
Pneumocystosis	Abnormal neutrophil count, Neoplasm, Weight loss	ORPHA:723
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Convex nasal ridge, Macrotia, Prominent nasal bridge	ORPHA:1110
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho...	ORPHA:540
Miller-Dieker Syndrome	Short nose, Anteverted nares	ORPHA:531
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Holocarboxylase Synthetase Deficiency	Growth delay, Thrombocytopenia	ORPHA:79242
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Depressed nasal bridge, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set e...	OMIM:617412
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Curly hair, Simple ear, Splenomegaly, Bulbous nose, Synophrys, Woolly hair, Coarse ...	OMIM:618268
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Thrombocytopenia	OMIM:617710
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Hydatidiform Mole	Menometrorrhagia, Anemia	ORPHA:99927
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Sparse eyelashes, Supernumerary nipple, Underdeveloped nasal alae, Sparse...	OMIM:129400
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o...	OMIM:617099
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Fine hair, Aplasia/Hypoplasia of the middle ear, Atresia of the external aud...	ORPHA:3236
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Reduced natural killer ce...	OMIM:241600
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Fine hair, Bifid n...	ORPHA:228390
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Jacobsen Syndrome	Missing ribs, Short neck, Cryptorchidism, Pectus excavatum, Clinodactyly of the 5th finger, Intra...	OMIM:147791
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Short stature, Splenomegaly, Vertebral compression fracture, Thrombocytopenia	OMIM:263700
Infantile Myofibromatosis	Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Abnormal hair morphology...	ORPHA:2591
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Opsismodysplasia	Splenomegaly, Short nose, Depressed nasal bridge, Hepatomegaly	ORPHA:2746
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Failure to thrive, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Anteverted ears, Protruding ear, Multiple lipomas, Sparse hair, Small ...	OMIM:181270
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Joint stiffness, Supraventricular arrhythmia, Ac...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Joint stiffness, Supraventricular arrhythmia, Ac...	ORPHA:98853
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul...	OMIM:610682
Down Syndrome	Conductive hearing impairment, Microtia, Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Leopard Syndrome 3	Curly hair, Posteriorly rotated ears, Depressed nasal bridge, Sensorineural hearing impairment, L...	OMIM:613707
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Increased bone mineral density, Prolonged QT interval, Ventri...	ORPHA:36913
3Q29 Microdeletion Syndrome	Failure to thrive, Prominent nasal bridge, Low-set ears, Short nose, Macrotia	ORPHA:65286
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Anemia, Finger swelling, Lymphopenia, Thrombocytopenia	OMIM:617591
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ...	ORPHA:2968
Combined Oxidative Phosphorylation Deficiency 14	Growth delay, Thrombocytopenia, Anemia	OMIM:614946
19Q13.11 Microdeletion Syndrome	Cachexia, Underdeveloped nasal alae, Supernumerary nipple, Hearing impairment, Fine hair, Sparse ...	ORPHA:217346
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, External ear malformation, Abnormal mesentery morphology, Prot...	ORPHA:2953
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Sensorineural hearing impairment, Nail dysplasia, Short nose, Failure to thrive	ORPHA:544503
Myhre Syndrome	Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p...	OMIM:139210
Distal Duplication 5Q	Prominent nasal bridge, Aplasia/Hypoplasia of the gallbladder, Low-set ears, Short nose, Macrotia	ORPHA:96097
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Zika Virus Disease	Intrauterine growth retardation, Thrombocytopenia	ORPHA:448237
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia, Large for gestational age, Sensorineural hearing impa...	ORPHA:500095
Alg12-Cdg	Overlapping fingers, Sandal gap, Proximal placement of thumb, Long fingers, Cryptorchidism, Short...	ORPHA:79324
Pallister-Hall-Like Syndrome	Short nose, Depressed nasal bridge, Hypothalamic hamartoma, Glioma	OMIM:241800
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ...	ORPHA:672
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Peho Syndrome	External ear malformation, Short nose, Macrotia, Anteverted nares	ORPHA:2836
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Genu valgum, Postaxial foot p...	OMIM:225500
Trigonocephaly 1	Short nose, Wide nasal bridge, Synophrys	OMIM:190440
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Facial capillary hemangioma, Bu...	ORPHA:364577
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Splenomegaly, Extension of h...	ORPHA:2729
Deeah Syndrome	Decreased hemoglobin concentration, Cervical hemivertebrae, Overlapping fingers, Short stature, S...	OMIM:619004
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Hepatic fibrosis, Polysplenia, Low-...	OMIM:200995
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Hyperthyroidism, Nonautoimmune	Tachycardia, Small for gestational age	OMIM:609152
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Visceral angiomatosis, Short nose, Generaliz...	ORPHA:1915
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Long nose, Decreased proportion of CD8-po...	ORPHA:508533
Cornelia De Lange Syndrome 1	Short stature, Proximal placement of thumb, Short neck, Cryptorchidism, Hypoplasia of the radius,...	OMIM:122470
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension	ORPHA:159
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Anteverted nares, Bulbous nose, Sparse hair, Short nose	OMIM:614105
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Small for gestational age, Slow-growing hair, Bilateral sensorineural hearing impai...	OMIM:616943
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Anteverted nares, Highly arched eyebrow, Synophrys, Wide nasal bridge, Low-set ...	OMIM:614701
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Alopecia, Abnormal eyebrow morphology, Abnormal fingernai...	ORPHA:1775
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari...	OMIM:127550
Trisomy 12P	Supernumerary nipple, Wide nasal bridge, Abnormal antihelix morphology, Low-set ears, Short nose,...	ORPHA:1699
Rabson-Mendenhall Syndrome	Wide nose, Enlarged ovaries, Anteverted nares, Prominent nasal bridge, Thick hair, Onychauxis, Lo...	ORPHA:769
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Rib fusion, Short foot, Hip dyspl...	OMIM:607872
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Large for gestational age, Cu...	OMIM:614080
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Normochromic anemia, Thrombocytopenia	OMIM:618775
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph...	OMIM:603553
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Leukopenia, Abnormal metac...	ORPHA:974
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Galloway-Mowat Syndrome 9	Coarse hair, Macrotia, Low-set ears	OMIM:619603
Smith-Magenis Syndrome	Anteverted nares, Failure to thrive in infancy, Depressed nasal bridge, Synophrys, Wide nasal bri...	ORPHA:819
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia, Weight loss	ORPHA:71273
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail...	OMIM:267700
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Obesity	OMIM:619854
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Prominent nose, Bulbous nose, Cupped ear, Depressed nasal ridge, Low poste...	OMIM:156200
Coffin-Siris Syndrome	Sparse scalp hair, Thick eyebrow, Depressed nasal bridge, Anteverted nares, Hearing impairment, B...	ORPHA:1465
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Short nose, Coarse hair, Anteverted nares	ORPHA:1185
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Joint stiffness, Supraventricular arrhythmia, Ac...	ORPHA:98863
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Splenomegaly, Low anterior hairline, Wide nasal bridge, ...	OMIM:618440
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lym...	OMIM:602579
Mogs-Cdg	Thoracic scoliosis, Hepatosplenomegaly, Hydrocele testis, Overlapping fingers, Thrombocytopenia	ORPHA:79330
Nablus Mask-Like Facial Syndrome	Small earlobe, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Sparse eyelashes,...	OMIM:608156
Neuhauser Syndrome	Depressed nasal bridge, Cupped ear, Low anterior hairline, Wide nasal bridge, Large fleshy ears	OMIM:249310
Distal Deletion 10Q	Abnormal morphology of the vestibule of the inner ear, Prominent nasal bridge, Prominent nose, Hy...	ORPHA:96148
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia	OMIM:615758
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th finger, Finge...	ORPHA:84
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Increased mean corpuscula...	ORPHA:33364
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Bdv Syndrome	Macrotia, Obesity	OMIM:619326
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Small for gestational age	ORPHA:289266
Tetrasomy 5P	Pericallosal lipoma, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears,...	ORPHA:3309
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment	OMIM:302950
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia	OMIM:618504
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Cupped ear, Gingival fibrom...	OMIM:602398
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Postnatal growth retardation, Incre...	ORPHA:487796
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Posteriorly rotated ears, Narrow nasal ridge, Bulbous nose, Synophrys, Low anterior hairline, Mac...	OMIM:619512
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re...	OMIM:620133
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Posteriorly rotated ears, Prominent nasal bridge, Highly arched eyebrow, Bulbous nose...	OMIM:617360
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Hepatic fi...	OMIM:615895
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Rib fusion, Hemivertebrae, Sl...	ORPHA:500150
Chronic Thromboembolic Pulmonary Hypertension	Myeloproliferative disorder, Neoplasm, Obesity	ORPHA:70591
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Psoriasis 14, Pustular	Nail dystrophy, Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Khan-Khan-Katsanis Syndrome	Failure to thrive, Highly arched eyebrow, Trichiasis, Sensorineural hearing impairment, Neutropen...	OMIM:618460
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum	OMIM:258850
Farber Disease	Short stature, Thrombocytopenia, Short toe, Hepatosplenomegaly, Abnormal sternum morphology, Shor...	ORPHA:333
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Dend Syndrome	Short nose, Anteverted nares, Elevated hemoglobin A1c, Thickened ears	ORPHA:79134
Diaphanospondylodysostosis	Depressed nasal bridge, Depressed nasal ridge, Nephroblastomatosis, Abnormal liver lobulation, Lo...	OMIM:608022
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ...	ORPHA:1791
Oculodentodigital Dysplasia	Narrow nasal bridge, Curly hair, Brittle hair, Anteverted nares, Abnormal fingernail morphology, ...	ORPHA:2710
Leopard Syndrome 2	Curly hair, Depressed nasal bridge, Low-set ears	OMIM:611554
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Orofaciodigital Syndrome Type 3	Low-set ears, Bulbous nose, Hamartoma of tongue, Abnormality of hair texture	ORPHA:2752
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Long nose, Macrotia, Prominent nose	OMIM:300486
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Frontal balding, Synophrys, Wide nasal bridge, Aplasia/Hypoplasia of the gallbl...	ORPHA:96092
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Tapered finger,...	ORPHA:2215
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Stiff neck, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis...	ORPHA:99827
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Long eyelashes, Bilateral conductive hearing impairment, Low-set ears, Sh...	OMIM:617802
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair, Small for gestational age, Prominent nasal bridge, Testicular neoplasm, Unde...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair, Small for gestational age, Prominent nasal bridge, Testicular neoplasm, Unde...	ORPHA:363958
Gracile Bone Dysplasia	Short stature, Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Bra...	OMIM:602361
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Nephroblastoma, Rhabdomyosarcoma, Large for ...	ORPHA:77301
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Posteriorly rotated ears, Abnormal eyelash morphology, Flared nostrils, L...	OMIM:206920
Trisomy 10P	Absent gallbladder, Anteverted nares, Small for gestational age, Depressed nasal bridge, Abnormal...	ORPHA:171929
Distal Deletion 9P	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma...	ORPHA:1642
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal hypertension, Splenomegaly, Leuk...	OMIM:615688
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Short neck, Accelerated sk...	ORPHA:373
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares, Thick eyebrow	ORPHA:228384
Porphyria Variegata	Hypertension, Tachycardia	ORPHA:79473
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis, Neoplasm of the skin	ORPHA:53715
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia...	OMIM:158310
Camurati-Engelmann Disease	Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bone diaphyses, Bone marrow hypoce...	OMIM:131300
16P11.2P12.2 Microdeletion Syndrome	Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Absent nasal bridge, Low-se...	ORPHA:261211
X-Linked Dominant Chondrodysplasia Punctata	Depressed nasal bridge, Sparse eyelashes, Abnormal hair pattern, Abnormal pinna morphology, Spars...	ORPHA:35173
Fucosidosis	Hepatomegaly, Wide nose, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Vacuolated lymphocyt...	OMIM:230000
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Conductive hearing impairment, Short nose, Failure to thrive, ...	ORPHA:561
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Thick hair, Broad nasal tip, Prominent nasolabial fold, Coarse hair, Low-set ea...	ORPHA:357074
Noonan Syndrome 8	Curly hair, Large for gestational age, Low-set ears, Left ventricular hypertrophy, Failure to thrive	OMIM:615355
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Al-Raqad Syndrome	Short nose, Low-set ears	OMIM:616459
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Macrotia	OMIM:617864
Cockayne Syndrome Type 2	Hepatomegaly, Macrotia, Hearing impairment	ORPHA:90322
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Overfolded helix, Low-set ears, Short nose, Failure to thrive	OMIM:613735
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Growth delay, Leukopenia, Neutropenia, Intrauterine growth retardation, Thrombocytopenia	OMIM:616271
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Cockayne Syndrome Type 3	Hepatomegaly, Dry hair, Splenomegaly, Premature graying of hair, Adult onset sensorineural hearin...	ORPHA:90324
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Jaundice...	ORPHA:1667
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, Scoliosis	ORPHA:457351
Eec Syndrome	Slow-growing hair, Choanal atresia, Sparse eyebrow, External ear malformation, Sensorineural hear...	ORPHA:1896
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Highly arched eyebrow, Short nose, Failure to thrive, Broad columella, Th...	OMIM:617865
Weaver Syndrome	Deep-set nails, Depressed nasal bridge, Thin nail, Fine hair, Sparse hair, Macrotia	OMIM:277590
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Lowry-Maclean Syndrome	Choanal atresia, Abnormality of the abdominal organs, Low-set ears, Generalized hypertrichosis, S...	ORPHA:2409
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge, Prolonged neonatal jaundice	OMIM:618437
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy	OMIM:618321
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Wide nasal bridge, Hearing impairment	OMIM:614078
Acrofacial Dysostosis, Cincinnati Type	Macrotia, Anotia, Microtia, Decreased body weight	OMIM:616462
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Prominent nose, Obesity, Prominent nasal tip, S...	ORPHA:439822
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo...	OMIM:616430
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive...	ORPHA:94093
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge, Low-set ears	OMIM:614732
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Congenital hepati...	ORPHA:2031
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Hypoplastic toenails, Cavernous hemangioma, ...	OMIM:616028
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Depressed nasal bridge, Profound he...	OMIM:619418
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Hemangioma, Alopecia of scalp	OMIM:615280
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge, Synophrys	ORPHA:401935
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Weight loss	ORPHA:216866
Tetrasomy 18P	Low-set, posteriorly rotated ears, Short nose	ORPHA:3307
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Hyperlordosis, Decreased proportion of CD4-positive helper T cells, Abnormal T cell subset distri...	ORPHA:221139
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Pancytopenia, Pectus excavatum, Abnormality of the spleen, Thrombocytopenia, Splen...	ORPHA:2072
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Wide nose, Slow-growing hair, Thickened helices, Highly arched eyebrow, Underdevelope...	OMIM:617506
3C Syndrome	Hypoplastic fingernail, Depressed nasal bridge, Wide nasal bridge, Low-set ears, Short nose, Faci...	ORPHA:7
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Thick eyebrow, Fine hair	OMIM:614800
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairm...	ORPHA:2719
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse eyelashes, Underdeveloped nasal alae, Long nose, Fine hair, Large earlobe, Low-set ears, S...	OMIM:257850
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Jaundice, Stage 5 chronic kidney disease, Multiple renal cysts...	OMIM:613095
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Alagille Syndrome 1	Depressed nasal bridge, Hepatocellular carcinoma, Long nose, Bulbous nose, Macrotia, Cholestasis,...	OMIM:118450
Galloway-Mowat Syndrome 1	Small for gestational age, Narrow nasal ridge, Prominent nose, Low-set ears, Small nail, Macrotia	OMIM:251300
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Cachexia	ORPHA:1389
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Overfolded helix, Microtia, Atresia of the external auditory c...	OMIM:610536
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose	ORPHA:93329
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Protruding ear, Abnormal antihelix morphology, Short nose	ORPHA:261144
Microcephaly 13, Primary, Autosomal Recessive	Macrotia, Small for gestational age, Prominent nose	OMIM:616051
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Protruding ear	OMIM:615539
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Tachycardia	OMIM:223900
Aarskog-Scott Syndrome	Anteverted nares, Widow's peak, Wide nasal bridge, Large earlobe, Short nose, Failure to thrive	OMIM:305400
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Microtia	ORPHA:2547
Zimmermann-Laband Syndrome 1	Hepatomegaly, Thick eyebrow, Posteriorly rotated ears, Thick hair, Highly arched eyebrow, Broad n...	OMIM:135500
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Proteinuria, Nocturia, Abnormal lymph node morphology, Lymphad...	ORPHA:85450
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Short stature, Anemia, Genu varum	OMIM:619743
Hennekam Syndrome	Benign neoplasm of the central nervous system, Lymphopenia, Depressed nasal bridge, Sparse axilla...	ORPHA:2136
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Cholera	Hypovolemic shock, Tachycardia, Hypotension	ORPHA:173
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Eisenmenger Syndrome	Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric...	ORPHA:97214
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Hypopigmentation of hair, Epistaxis, Thrombocytopeni...	ORPHA:167
Stickler Syndrome Type 1	Short nose, Sensorineural hearing impairment	ORPHA:90653
Microphthalmia, Isolated, With Coloboma 9	Macrotia, Low-set ears	OMIM:615145
Achondrogenesis	Short nose, Anteverted nares	ORPHA:932
Developmental And Epileptic Encephalopathy 49	Macrotia, Long eyelashes, Thick eyebrow, Prominent nose	OMIM:617281
Alg9-Cdg	Low-set, posteriorly rotated ears, Hepatomegaly, Depressed nasal bridge, Underdeveloped nasal ala...	ORPHA:79328
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Severe Oculo-Renal-Cerebellar Syndrome	Large earlobe, Macrotia	ORPHA:2715
Witteveen-Kolk Syndrome	Glue ear, Uplifted earlobe, Protruding ear, Fragile nails, Thickened helices, Medial flaring of t...	OMIM:613406
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C...	OMIM:208500
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Schwartz-Jampel Syndrome	Short neck, Coxa vara, Pectus carinatum, Abnormally ossified vertebrae, Short stature, Hyperlordo...	ORPHA:800
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness	ORPHA:1300
Overlap Myositis	Thrombocytopenia, Subluxation of the small joints of the hand, Finger swelling, Leukopenia	ORPHA:206572
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Anteverted nares, Synophrys, Coarse hair, Hearing impairment	OMIM:616351
Illum Syndrome	Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Harel-Yoon Syndrome	Short nose	OMIM:617183
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ...	ORPHA:391487
Congenital Disorder Of Glycosylation, Type Iu	Short nose	OMIM:615042
Oculodentodigital Dysplasia	Narrow nasal bridge, Dry hair, Anteverted nares, Slow-growing hair, Abnormal pinna morphology, Un...	OMIM:164200
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Pili torti, Fine hair	ORPHA:1573
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Acrogeria	Convex nasal ridge, Fine hair	ORPHA:2500
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Low-set ears, Short ...	OMIM:619859
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Prominent nose, Synophrys, Chronic otitis media, Thoracic hypertrichosis, Hepatic ...	OMIM:619503
Acrodysostosis	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Short nose, A...	ORPHA:950
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Intrauterine growth retardation, Short stature, HbH hemoglobin	ORPHA:423479
Kabuki Syndrome 1	Hemolytic anemia, Posteriorly rotated ears, Highly arched eyebrow, Autoimmune thrombocytopenia, S...	OMIM:147920
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Myhre Syndrome	Brachydactyly, Severe short stature, Cryptorchidism, Abnormal rib morphology, Platyspondyly, Hypo...	ORPHA:2588
Pediatric-Onset Graves Disease	Splenomegaly, Intrauterine growth retardation, Neutropenia in presence of anti-neutropil antibodi...	ORPHA:525731
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic...	OMIM:557000
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Cirrhosis, Macrotia, Hep...	OMIM:269700
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Sho...	ORPHA:249
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Short stature, Rocker bottom foot, Thrombocyto...	ORPHA:163979
C Syndrome	Hepatomegaly, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears, Short ...	OMIM:211750
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia	OMIM:239200
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Small for gestational age, Bulbous nose, Low-set ears, Round ear, Sparse ...	OMIM:614114
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, T...	ORPHA:363659
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Synophrys	DECIPHER:52
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hemangioma, Depressed nasal bridge, Large for gestational age	ORPHA:457485
Achondrogenesis Type 1A	Short nose, Anteverted nares	ORPHA:93299
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Tapered finger, Splenomegaly, Scoliosis, Thrombocytopenia	OMIM:301072
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Sparse scalp hair, Hearing impairment, Prominent nose, Bulbous nose, Recurrent up...	OMIM:150230
Pontocerebellar Hypoplasia, Type 2E	Large earlobe, Wide nose, Failure to thrive, Short nose	OMIM:615851
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Failure to thrive	OMIM:263800
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Bulbous nose, Wide nasal bridge, Protruding ear, Horizontal eyebrow, Low-set ears, Short nose	OMIM:618571
Baller-Gerold Syndrome	Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Lymphoma, Conductive h...	ORPHA:1225
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Posteriorly rotated ears, Hyperconvex nail, Highly arched eyebrow, Broad nasal tip, Sensorineural...	OMIM:239300
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplastic toenails, Short nose, Depressed nasal bridge, Nail dysplasia	ORPHA:2835
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, Depressed nasal bridge, Anteverted nares, Posteriorly ro...	ORPHA:96176
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Macrotia, Hepatic steatosis, Hirsutism	OMIM:608594
Asparagine Synthetase Deficiency	Prominent nasal tip, Macrotia, Failure to thrive, Simple ear	OMIM:615574
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Prominent nose, Low anterior hairline, Hirsutism, Low-set ears, Woolly hai...	OMIM:619244
Wiedemann-Steiner Syndrome	Sacral dimple, Short stature, Tapered finger, Postnatal growth retardation, Contracture of the di...	OMIM:605130
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hair shafts flat...	OMIM:262000
Chromosome 15Q11.2 Deletion Syndrome	Bulbous nose, Macrotia, Narrow nose	OMIM:615656
Bartsocas-Papas Syndrome	Alopecia totalis, Underdeveloped nasal alae, Hypoplastic toenails, Sparse or absent eyelashes, Sh...	ORPHA:1234
Fg Syndrome 3	Sparse hair, Sensorineural hearing impairment, Frontal upsweep of hair, Fine hair	OMIM:300406
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Long eyelashes, L...	OMIM:618529
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, External ear malformation, Wide nasal bridge, Obesity, Weight loss, Low-s...	ORPHA:251071
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Hepatomegaly, Short nose, Failure to thrive, Low anterior hairline	ORPHA:329178
Rodrigues Blindness	Narrow nasal bridge, Protruding ear, Sparse hair, Fine hair	OMIM:268320
Marshall-Smith Syndrome	Brittle hair, Depressed nasal bridge, Anteverted nares, Choanal atresia, Highly arched eyebrow, H...	OMIM:602535
Revesz Syndrome	Aplastic anemia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, ...	OMIM:268130
2P15P16.1 Microdeletion Syndrome	Prominent nasal bridge, Supernumerary nipple, Sparse eyebrow, Wide nasal bridge, Fine hair, Protr...	ORPHA:261349
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Short stature, Abnormal hemoglobin, Cryptorchidism, Clinodactyly of the 5th finger, Anemia, Brach...	ORPHA:847
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Macrotia, Hamartoma of tongue, Prominent nose	OMIM:616300
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Supernumerary nipple, Fine hair, Aplastic/hypoplastic toenail, Low-set ea...	ORPHA:1812
Björnstad Syndrome	Alopecia, Brittle hair, Sensorineural hearing impairment	ORPHA:123
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Endometrial carcinoma, Melanoma, Macrotia, Breast carcinoma	ORPHA:457212
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anteverted nares, Synophrys, Prominent superior crus of antihelix, Overfolded helix, Large fleshy...	ORPHA:280633
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Thick eyebrow, Splenomegaly, Sensorineural hearing impairment, Recurrent upper resp...	OMIM:253220
Mucolipidosis Type Ii	Dry hair, Depressed nasal bridge, Splenomegaly, Conductive hearing impairment, White hair, Sensor...	ORPHA:576
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Aicardi-Goutieres Syndrome 1	Splenomegaly, Short stature, Thrombocytopenia	OMIM:225750
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Posteriorly rotated ears, Long nose, Low-set ears, Short nose, Hypertrich...	OMIM:618590
Arthrogryposis, Distal, Type 2A	Small for gestational age, Abnormal auditory evoked potentials, Underdeveloped nasal alae, Wide n...	OMIM:193700
Lathosterolosis	Anteverted nares, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepa...	OMIM:607330
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Anteverted nares, Depressed nasal bridge, Jaundice, Concave nasal ridge, Prolonged neonatal jaund...	OMIM:613038
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Failure to thrive, Abnormality of hair texture, Megaloblastic anemia	ORPHA:79351
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Prominent nasal bridge, Fine hair, Low-set ears, Sparse hair, Short nose, Abnormality ...	ORPHA:251028
Mucopolysaccharidosis Type 3	Hepatomegaly, Mixed hearing impairment, Thick hair, Thickened helices, Cardiomegaly, Adenoiditis,...	ORPHA:581
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Prominent eyelashes, Wide nasal bridge, Short nose, Failure to thrive	OMIM:619179
Nance-Horan Syndrome	Macrotia, Prominent nasal bridge, Prominent nose	OMIM:302350
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the...	ORPHA:464321
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Hip dysplasia, Thrombocytopenia	OMIM:208085
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Posterior rib fusion, Butterfly vertebrae	OMIM:265380
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Cryptorchidism, Humero...	ORPHA:3404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Large for gestational age, Low-set ears, Short nose	OMIM:615398
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair, Sensorineural hearing impairment	ORPHA:1883
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, White hair, Fine hair, Lymphopenia, Anemia	ORPHA:935
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Generalized hirsutism, Sarcoma	ORPHA:626
Rift Valley Fever	Back pain, Thrombocytopenia, Anemia	ORPHA:319251
Meier-Gorlin Syndrome 6	Anteverted nares, Small for gestational age, Depressed nasal bridge, Underdeveloped nasal alae, P...	OMIM:616835
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Am...	OMIM:616026
Kabuki Syndrome	Highly arched eyebrow, Macrotia, Sensorineural hearing impairment, Obesity, Protruding ear, Short...	ORPHA:2322
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Gapo Syndrome	Hepatomegaly, Alopecia, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Sparse eyebro...	OMIM:230740
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Sparse eyebrow, Macrotia, Hirsutism	ORPHA:496641
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Supernum...	OMIM:618454
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Anteverted nares, Hearing impairment, Cardiomegaly, Retroperitoneal fibrosis, Splen...	OMIM:602782
3Mc Syndrome	Abnormal pinna morphology, Supernumerary nipple, Highly arched eyebrow, Abnormal nasal morphology...	ORPHA:293843
Acrofacial Dysostosis, Catania Type	Low-set, posteriorly rotated ears, Short nose, Coarse hair, Abnormal hair pattern	ORPHA:1786
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Depressed nasal bridge, Absent nipple, Sparse eyelashes, Underdevel...	OMIM:305100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Steatocystoma multiplex, N...	OMIM:167210
Dyrk1A-Related Intellectual Disability Syndrome	Small for gestational age, Prominent nasal bridge, Narrow nasal tip, Macrotia, Protruding ear, Fa...	ORPHA:464306
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Hajdu-Cheney Syndrome	Hepatomegaly, Wide nose, Anteverted nares, Abnormal fingernail morphology, Splenomegaly, Synophry...	ORPHA:955
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort...	ORPHA:488434
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Elevated...	OMIM:277900
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Holoprosencephaly 7	Flat nasal alae, Synophrys, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip...	OMIM:610828
Vulto-Van Silfhout-De Vries Syndrome	Widow's peak, Horizontal eyebrow, Fine hair	OMIM:615828
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Brittle hair, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Sparse eyebro...	OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Failure to thrive, Underdeveloped nasal alae, Low hanging columella	OMIM:300986
Galloway-Mowat Syndrome	Macrotia, Hypoplasia of the ear cartilage	ORPHA:2065
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Synophrys, Wide nasal bridge, Lon...	OMIM:615803
Neu-Laxova Syndrome	Abnormal eyelash morphology, Macrotia, Depressed nasal ridge, Abnormal hair morphology	ORPHA:2671
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:163649
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Posteriorly rotated ears, Prominent nasal bridge, Large for gestational age, Sparse eyebrow, Low-...	OMIM:617011
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Highly arched eyebrow, Synophrys, Obesity, Short nose, Failure to thrive, Heari...	ORPHA:96147
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Sparse eyebrow, Sensorineural hearing...	ORPHA:560
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, Posteriorly rotated...	ORPHA:1974
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Abdominal obesity, Short nose, Hepatic steatosis, Convex nasal ridge	OMIM:619321
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Anteverted nares, Sparse eyebrow, Wide nasal bridge	OMIM:618810
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Cornelia De Lange Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cur...	ORPHA:199
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose	OMIM:617822
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Donnai-Barrow Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme...	OMIM:222448
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Abnormal fingernail morphology, Protruding ear, Fine hair, Sparse hair, Hear...	ORPHA:1806
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Odontochondrodysplasia	Short nose, Depressed nasal bridge	ORPHA:166272
Cockayne Syndrome B	Hepatomegaly, Slender nose, Dry hair, Small for gestational age, Prominent nasal bridge, Abnormal...	OMIM:133540
Desbuquois Dysplasia 1	Short nose, Concave nasal ridge, Depressed nasal bridge, Obesity	OMIM:251450
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Femur fracture, Splenomegaly, Growth delay, Anemia	OMIM:612301
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Chronic rhinitis, Otiti...	ORPHA:667
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Low-set ears, Short nose, Sparse lateral eyebrow	ORPHA:314655
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Narrow chest, Abnormal vertebral morphology, Short metacarpal, Abnormal metacarpa...	ORPHA:95699
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Anosmia, Aplastic/hypoplastic toenail, Abnormal nostril morphology, Short nose	ORPHA:1295
Pseudoleprechaunism Syndrome, Patterson Type	Macrotia, Hirsutism, Prominent nose	ORPHA:2976
Teebi Hypertelorism Syndrome 1	Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Widow's peak, Wide nasal bridge,...	OMIM:145420
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Short stature, Tapered ...	OMIM:303600
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c...	OMIM:304120
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Choanal atresia, Underdeveloped nasal alae, Sparse eyebrow, Abnormali...	ORPHA:2108
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti...	OMIM:117650
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Recurrent otitis media, Macrotia	ORPHA:449291
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b...	ORPHA:83
Oculocerebrorenal Syndrome Of Lowe	Short stature, Kyphosis, Cryptorchidism, Abnormal rib morphology, Hip dislocation, Genu valgum, A...	ORPHA:534
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Posteriorly rotated ears, Microtia, Long eyelashes, Low-set ears, Absent ...	OMIM:601353
Cardiofaciocutaneous Syndrome 3	Curly hair, Failure to thrive	OMIM:615279
Ruvalcaba Syndrome	Short nose, Convex nasal ridge, Generalized hirsutism	ORPHA:3121
Acute Intermittent Porphyria	Hypertension, Tachycardia	ORPHA:79276
Kikuchi-Fujimoto Disease	Hepatomegaly, Alopecia, Generalized lymphadenopathy, Thrombocytopenia, Splenomegaly, Cervical lym...	ORPHA:50918
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Sparse eyebrow, Low-set ears...	OMIM:244450
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Pectus excavatum, Thrombocytopenia, Splenomegaly, Pectus carinatum, Narrow che...	OMIM:619525
Cutis Laxa, Autosomal Recessive, Type Iid	Bulbous nose, Macrotia, Wide nasal bridge, Protruding ear, Narrow naris, Low-set ears, Failure to...	OMIM:617403
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Macrotia, Bilateral sensorineural hearing impairment, Wide nasal bridge	ORPHA:521445
Noonan Syndrome	Abnormal hair quantity, Hepatomegaly, Low-set, posteriorly rotated ears, Aplasia of the semicircu...	ORPHA:648
Renpenning Syndrome 1	Brittle hair, Hearing impairment, Bulbous nose, Cupped ear, Wide nasal bridge, Protruding ear, Sp...	OMIM:309500
Toluene Embryopathy	Short nose, Low-set ears, Protruding ear	ORPHA:1920
Kleefstra Syndrome	Anteverted nares, Highly arched eyebrow, Supernumerary nipple, Synophrys, Obesity, Thickened heli...	ORPHA:261494
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Prominent nasal bridge, Wide nasal bridge, Nail pits,...	ORPHA:978
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Growth delay, Anemia, Delayed puberty, Thrombocytopenia	ORPHA:77261
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Hemangioma, Short nose	ORPHA:280200
Lenz-Majewski Hyperostotic Dwarfism	Failure to thrive, Choanal atresia, Sensorineural hearing impairment, Choanal stenosis, Sparse ha...	OMIM:151050
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Menorrhagia, Imp...	ORPHA:274
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Narrow nasal ridge, Sparse hair, Short nose	OMIM:608612
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Anteverted nares, Bulbous nose, Neutropenia, Short nose	OMIM:271510
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Neoplas...	ORPHA:3353
Chondrodysplasia-Difference Of Sex Development Syndrome	Macrotia	ORPHA:1422
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Small for gestational age, Sensorineural hearing impairment, Low-set ears...	OMIM:300661
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Thin nail, Highly arched eyebrow, Syno...	ORPHA:261112
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Peho Syndrome	Short nose	OMIM:260565
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the ep...	OMIM:617088
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair, Depressed nasal bridge, Broad nasal tip	ORPHA:363686
Microlissencephaly-Micromelia Syndrome	Short nose, Failure to thrive, Generalized hypertrichosis	ORPHA:50810
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Trisomy 8P	Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Recurrent upper respiratory t...	ORPHA:264450
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Arthri...	ORPHA:99826
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidis...	ORPHA:261344
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Dyspareunia, Abnormality of neutrophils	ORPHA:36426
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Wide nasal ridge, Anteverted ears, Sensorineural hearing impairment, Protruding ear, Low-set ears...	ORPHA:459070
Urachal Cyst	Abdominal mass, Abscess, Leukocytosis, Peritonitis, Neoplasm	ORPHA:488
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron con...	OMIM:619991
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Adenylosuccinase Deficiency	Short nose, Anteverted nares, Low-set ears	OMIM:103050
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Cutis Laxa, Autosomal Recessive, Type Iiib	Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Prominent ear helix, Fin...	OMIM:614438
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Anteverted nares, Thick nasal alae, Hearing impairment, Prominent nose, Broad nasal t...	OMIM:619950
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Failure to thrive, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Low-set ears, Short nose, Failure to thrive, Hirsutism	OMIM:617527
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the liver, Failure to thrive, Abnormality of hair texture, Hepatocellular carcinoma	ORPHA:88618
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Hearing impairment	OMIM:256600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Prominent nasal bridge, Large for gestational age, Sparse eyeb...	ORPHA:457359
Brucellosis	Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Orchiti...	ORPHA:1304
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Wiedemann-Steiner Syndrome	Synophrys, Wide nasal bridge, Long eyelashes, Low-set ears, Congenital, generalized hypertrichosi...	ORPHA:319182
Raine Syndrome	Mixed hearing impairment, Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Posteri...	OMIM:259775
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Prominent nasal bridge, Unde...	ORPHA:163746
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Nail dystrophy, Nail dysplasia, Conductive hearing impairment, Short nose	OMIM:311300
Genitopatellar Syndrome	Sparse scalp hair, Wide nose, Prominent nasal bridge, Prominent nose, Fine hair, Low-set ears, He...	ORPHA:85201
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Thrombocytopenia	ORPHA:572798
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Prominent nasal bridge, Sensorineural hearing impairment, Sparse hair,...	OMIM:601812
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Posteriorly rotated ears, Large for gestational age, Loose anagen ...	OMIM:607721
Craniolenticulosutural Dysplasia	Wide nose, Brittle hair, Prominent nasal bridge, Coarse hair, Capillary hemangioma, Sparse hair	ORPHA:50814
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Scarring al...	ORPHA:79277
Orofaciodigital Syndrome Type 4	Hamartoma, Wide nose, Microtia, third degree, Posteriorly rotated ears, Choanal atresia, Hypoplas...	ORPHA:2753
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Abnormality of the ear, Increased size of nasopharyngeal adenoids, Low-se...	ORPHA:457395
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Long nose, Short nose, Failure to thrive, Narrow nose	OMIM:617602
Cockayne Syndrome A	Hepatomegaly, Slender nose, Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potenti...	OMIM:216400
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma	ORPHA:44890
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Arterial Tortuosity Syndrome	Macrotia, Convex nasal ridge	OMIM:208050
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Arterial Tortuosity Syndrome	Short nose, Macrotia	ORPHA:3342
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose	ORPHA:496790
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Pi...	ORPHA:97283
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Protruding ear, Otitis media, Hepatic steatosis, Anteverted nares, Overweight, Obesity...	OMIM:619475
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the sweat glands, Concave nasal ridge, ...	OMIM:612132
Beckwith-Wiedemann Syndrome	Cardiomegaly, Large for gestational age, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Posterior heli...	ORPHA:116
Autosomal Dominant Robinow Syndrome	Wide nose, Alopecia, Depressed nasal bridge, Anteverted nares, Curly eyelashes, Posteriorly rotat...	ORPHA:3107
Vater/Vacterl Association	Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, P...	OMIM:192350
Autosomal Dominant Omodysplasia	Short nose, Depressed nasal bridge	ORPHA:93328
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed...	OMIM:618332
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Short nose, Failure to thriv...	ORPHA:521426
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Atresia of the extern...	ORPHA:261236
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Abnorma...	ORPHA:97261
Distal Deletion 12Q	Failure to thrive in infancy, Anteverted nares, Prominent ear helix, Bulbous nose, Pituitary aden...	ORPHA:96149
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Failure to thrive, Hepatic steatosis, Pancreatitis	OMIM:236200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Hearing impairment, Broad nasal tip, Wide nasal bridge, Short nose, Hypoplastic fingernail	OMIM:614749
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Choanal atresia, Hamartoma of tongue, Underdeveloped nasal alae, Pancreat...	ORPHA:2750
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Oste...	ORPHA:280365
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne...	ORPHA:821
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor...	ORPHA:634
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Microtia, Depressed nasal bridge, Low-set ears	OMIM:616723
Pfeiffer Syndrome Type 1	Short nose, Depressed nasal bridge, Low-set ears, Hearing impairment	ORPHA:93258
Orofaciodigital Syndrome I	Dry hair, Alopecia, Hamartoma of tongue, Underdeveloped nasal alae, Pancreatic cysts, Wide nasal ...	OMIM:311200
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, A...	ORPHA:97282
Viss Syndrome	Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Depressed nasal bridge, Pr...	OMIM:619472
Costello Syndrome	Deep-set nails, Curly hair, Anteverted nares, Depressed nasal bridge, Thin nail, Concave nail, Rh...	OMIM:218040
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Macrotia, Cavernous hemangioma of the face, Cavernous hemangioma, Acute myelomonocytic leukemia, ...	ORPHA:99646
Shigellosis	Abscess, Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia	ORPHA:810
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Atresia of the external auditory canal, Low-set ears, Sh...	ORPHA:93259
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Pi...	ORPHA:97278
Hallermann-Streiff Syndrome	Sparse scalp hair, Small for gestational age, Prominent nasal bridge, Sparse eyelashes, Underdeve...	OMIM:234100
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Cupped ear, Protruding ear, Nail dystrophy	ORPHA:93947
Melnick-Needles Syndrome	Failure to thrive, Coarse hair, Recurrent otitis media, Frontal hirsutism, Macrotia	OMIM:309350
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Fine hair	OMIM:619428
Lujo Hemorrhagic Fever	Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia	ORPHA:319213
Au-Kline Syndrome	Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Supernumera...	OMIM:616580
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Craniolenticulosutural Dysplasia	Brittle hair, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Coarse hair, Capillary...	OMIM:607812
Miller-Dieker Lissencephaly Syndrome	Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears, Short nose, Failure ...	OMIM:247200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Short nose, Supernumerary nipple, Hypoplastic fifth toenail	ORPHA:457279
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia	ORPHA:293978
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Dilated cardiomyopathy, Osteoporosis, Reduced left ventricular ejection frac...	ORPHA:254892
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Hypoplastic fifth fingernail, Sensorineural hearing impairment, Wide nasal bridg...	OMIM:614207
Pearson Syndrome	Reticulocytosis, Pancytopenia, Postnatal growth retardation, Thrombocytopenia, Splenomegaly, Grow...	ORPHA:699
Hypomandibular Faciocranial Dysostosis	Low-set ears, Anteverted nares, Choanal stenosis, Short nose	ORPHA:1790
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Macrotia	ORPHA:536532
Somatomammotropinoma	Wide nose, Abnormal fingernail morphology, Synophrys, Pituitary adenoma, Pituitary prolactin cell...	ORPHA:314769
Gorlin-Chaudhry-Moss Syndrome	Low anterior hairline, Coarse hair, Conductive hearing impairment, Aplasia/Hypoplasia of the nasa...	ORPHA:2095
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Low-set ears, Stenosis of the external auditory canal, S...	ORPHA:93260
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Choanal atresia, Abnormal eyelash morphology, Abnormal...	ORPHA:2273
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Wide nasal bridge, Low-set ears, Short nose, Failure to thrive	OMIM:613457
Monosomy 22Q13.3	Hypoplastic toenails, Bulbous nose, Wide nasal bridge, Obesity, Long eyelashes, Macrotia, Thick e...	ORPHA:48652
Cohen-Gibson Syndrome	Depressed nasal bridge, Thin nail, Wide nasal bridge, Long ear, Small nail, Low-set ears, Macrotia	OMIM:617561
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Conductive hearing impa...	ORPHA:1071
Ayme-Gripp Syndrome	Sparse scalp hair, Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impair...	OMIM:601088
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:217980
Cerebrooculonasal Syndrome	Anteverted nares, Prominent nasal bridge, Proboscis, Sparse eyelashes, Sparse eyebrow, Posteriorl...	OMIM:605627
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Sparse eyebrow, Wide nasal bridge, Fine hair, Low-set ears, Sparse hair, Failur...	ORPHA:444072
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Synophrys, Wide nasal bridge, Low-set ears, Short nose, Ascites	OMIM:620369
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small for gestational age, Posteriorly rotated ears, Broad nasal tip, Bul...	OMIM:309590
Fontaine Progeroid Syndrome	Sparse scalp hair, Absent nipple, Depressed nasal bridge, Small for gestational age, Posteriorly ...	OMIM:612289
X-Linked Intellectual Disability, Armfield Type	Depressed nasal bridge, Facial capillary hemangioma, Long ear, Capillary hemangioma, Macrotia	ORPHA:85276
Cadds	Short nose, Cholangitis, Cholestasis, Sensorineural hearing impairment	ORPHA:369942
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep...	OMIM:619381
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Growth delay, Neutropenia, Intrauterine growth retardation, Thrombocytopenia	ORPHA:79282
Acromegaly	Wide nose, Abnormal fingernail morphology, Synophrys, Pituitary prolactin cell adenoma, Pituitary...	ORPHA:963
Q Fever	Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Thrombocytopenia	ORPHA:781
Aymé-Gripp Syndrome	Sparse scalp hair, Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impair...	ORPHA:1272
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Tangier Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:31150
Temtamy Preaxial Brachydactyly Syndrome	Severe sensorineural hearing impairment, Short nose, Low-set ears	ORPHA:363417
Gaisböck Syndrome	Overweight, Splenomegaly, Vertigo, Increased mean corpuscular hemoglobin concentration, Obesity, ...	ORPHA:90041
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatitis, Anemia	OMIM:300755
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Short nose, Anteverted nares	ORPHA:59315
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose	OMIM:258480
22Q11.2 Deletion Syndrome	Short stature, Arachnodactyly, Abnormality of thrombocytes, Short neck, Splenomegaly, Cryptorchid...	ORPHA:567
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Prominent nose, Sparse eyebrow, Fine hair, Onycholysis, Nail...	OMIM:614748
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Finger syndactyly...	ORPHA:818
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Microtia, Short columella, Low-set ears, Short nose	OMIM:613603
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Ring Chromosome 7 Syndrome	Small earlobe, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Prominent crus of...	ORPHA:1449
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Intrauterine growth retardation, Thrombocyt...	OMIM:615846
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Robinow Syndrome, Autosomal Dominant 2	Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairm...	OMIM:616331
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Hypopigmentation of hair, Anteverted nares, Prominent nose, Broad nasal tip,...	ORPHA:177907
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Short nail, Supernumerary nipple, Nephrob...	OMIM:312870
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Underdeveloped nasal alae, Absent ...	OMIM:263650
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Obesity	ORPHA:1772
Pfeiffer Syndrome	Depressed nasal bridge, Choanal stenosis, Choanal atresia, Short nose	OMIM:101600
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Norrie Disease	Narrow nasal bridge, Cachexia, Macrotia, Sensorineural hearing impairment, Protruding ear, Abnorm...	ORPHA:649
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Prostatitis, Short stature, Absent circulating B cells, Delayed puberty	OMIM:307200
Trisomy 18	Low-set, posteriorly rotated ears, Choanal atresia, Cachexia, Pointed helix, Short nose, Abnormal...	ORPHA:3380
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Small for gestational age, Failure to thrive in infancy, Fine hair, Sparse hair, Na...	OMIM:618891
Stuve-Wiedemann Syndrome 1	Anteverted nares, Low-set ears, Sparse hair, Wide nasal base, Short nose, Low hanging columella	OMIM:601559
Craniofrontonasal Syndrome	Ridged nail, Split nail, Curly hair, Bifid nasal tip, Widow's peak, Wide nasal bridge, Hypoplasti...	OMIM:304110
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Low-set ears, Recurre...	OMIM:154780
Amelo-Onycho-Hypohidrotic Syndrome	Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair	ORPHA:1028
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly r...	ORPHA:536467
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Cupped ear, High anterior hairline, ...	OMIM:615873
Opitz-Kaveggia Syndrome	Choanal atresia, Prominent nose, Sensorineural hearing impairment, Fine hair, Frontal upsweep of ...	OMIM:305450
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Anteverted nares, Small for gestational age, Highly arched eye...	ORPHA:363611
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Ablepharon Macrostomia Syndrome	Absent eyebrow, Depressed nasal bridge, Anteverted nares, Abnormal hair pattern, Underdeveloped n...	ORPHA:920
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Nail dystrophy, Short nose, Convex nasal ridge	ORPHA:90154
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Underdeveloped nasal alae, Sensorineural hearing impairment, Short nose, ...	OMIM:616007
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hematur...	OMIM:232240
Dextrocardia	Abnormality of the spleen, Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae	OMIM:306955
Robinow Syndrome, Autosomal Dominant 3	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long eyelashes, Low-set ears, Short ...	OMIM:616894
Malan Syndrome	Short nose	OMIM:614753
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Failure to thrive, Synophrys	ORPHA:476126
Primrose Syndrome	Sparse scalp hair, Calcification of the auricular cartilage, Depressed nasal bridge, Anteverted n...	OMIM:259050
Oculo-Palato-Cerebral Syndrome	Thickened helices, Macrotia, Aplasia/Hypoplasia of the nails	ORPHA:2714
Cranioectodermal Dysplasia 1	Hepatomegaly, Anteverted nares, Thin nail, Malformation of the hepatic ductal plate, Short nail, ...	OMIM:218330
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Sparse scalp hair, Depressed nasal bridge, Anteverted nares, H...	ORPHA:536471
Osteoglophonic Dysplasia	Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypoplastic toenails, Nasal congestion...	OMIM:166250
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, Brittle hair, Prominent nasal bridge	OMIM:619184
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Vesicoureteral refl...	OMIM:130650
Toriello-Carey Syndrome	Abnormal pinna morphology, Sparse eyebrow, Anotia, Low-set ears, Thickened helices, Short nose, H...	ORPHA:3338
Lenz-Majewski Hyperostotic Dwarfism	Hyperconvex fingernails, Macrotia, Choanal atresia, Hypoplastic fingernail	ORPHA:2658
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Congestive heart failure, Osteoporosis, Weight loss, Hyp...	ORPHA:91347
Holoprosencephaly 14	Low-set ears, Macrotia, Anteverted nares, Proboscis	OMIM:619895
Holoprosencephaly 9	Depressed nasal bridge, Single naris, Prominent antihelix, Macrotia, Underdeveloped tragus	OMIM:610829
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypoplastic helices, Macrotia, Low-set ears	OMIM:600460
Plague	Tachycardia, Hematemesis, Arthritis, Hypotension, Arrhythmia	ORPHA:707
Craniorachischisis	Bifid sternum	ORPHA:63260
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Hepatic fibrosis, Failure to thrive, Trichorrhexis nodosa	OMIM:207900
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Abnormality of the ear, Short nose, Failure to thrive, Hearing impairment	ORPHA:3339
Ear-Patella-Short Stature Syndrome	Severe short stature, Camptodactyly of finger, Aplastic clavicle, Cryptorchidism, Patellar aplasi...	ORPHA:2554
C Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Failure to thrive in infancy, Abnormal hair ...	ORPHA:1308
Noonan Syndrome 9	Sparse eyebrow, Curly hair	OMIM:616559
Digeorge Syndrome	Pilonidal sinus, Short stature, Thrombocytopenia, Splenomegaly, Hydrocele testis, Hypoplasia of t...	OMIM:188400
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Anemia, Short 4th metacarpal...	ORPHA:2908
Acrocallosal Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Wide nasal bridge, Low-set ears, Short nose,...	OMIM:200990
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Highly arched eyebrow, Posteriorly rotated ears, Synophrys, Lo...	OMIM:301044
Alzahrani-Kuwahara Syndrome	Posteriorly rotated ears, Prominent nose, Bulbous nose, Low-set ears, Macrotia, Hearing impairment	OMIM:619268
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Highly arched eyebrow, Wide nasal bridge, Microtia, Short nose, Hearing impairment	ORPHA:2282
Williams Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Abnormal fingernail morphology, ...	ORPHA:904
Keutel Syndrome	Calcification of the auricular cartilage, Depressed nasal bridge, Cartilaginous ossification of n...	OMIM:245150
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Frontal hirsutism, Obesity, Wide nasal...	OMIM:617157
Pagod Syndrome	Abnormal clavicle morphology, Short stature, Abnormality of the spleen, Abnormal rib morphology, ...	ORPHA:991
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set, posteriorly rotated ears, Curly hair, Depressed nasal bridge, Choanal atresia, Hearing i...	ORPHA:480880
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Craniofacial-Deafness-Hand Syndrome	Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment	OMIM:122880
Geleophysic Dysplasia 1	Hepatomegaly, Anteverted nares, Small nail, Thickened helices, Short nose	OMIM:231050
Sponastrime Dysplasia	Aplasia of the nasal bone, Wide nose, Depressed nasal bridge, Small for gestational age, Antevert...	ORPHA:93357
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Gaucher Disease	Pancytopenia, Short stature, Splenomegaly, Anemia, Delayed puberty, Thrombocytopenia	ORPHA:355
Charge Syndrome	Short stature, Hypogonadotropic hypogonadism, Postnatal growth retardation, Cryptorchidism, Abnor...	ORPHA:138
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Small for gestational age, Choanal atresia, Sensorineural he...	OMIM:107480
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Wide nasal bridge, Microtia, Chronic otitis media, Short nose	ORPHA:93
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, ...	OMIM:135900
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Small for gestational age, Prominent nasal bridge, Failure to thrive in infancy, Underdeveloped n...	ORPHA:268261
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Hepatomegaly, Dry hair, Cachexia, Splenomegaly, ...	ORPHA:191
Sarcoidosis	Abnormal cardiac ventricular function, Portal hypertension, Heart block, Bone cyst, Ventricular t...	ORPHA:797
Craniofacial Microsomia 1	Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia	OMIM:164210
Unilateral Polymicrogyria	Abnormal posturing, Epistaxis	ORPHA:268943
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Abnormal location of the eyebrow, Widow's peak, Horizontal eyebrow, Prominent nasal tip, Short nose	ORPHA:522077
Yellow Fever	Low back pain, Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Highly arched eyebrow, Widow's peak, Wide nasal bridge, Low-set ears, Abn...	ORPHA:1519
Carey-Fineman-Ziter Syndrome	Short nose, Anteverted nares	ORPHA:1358
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Abse...	OMIM:229400
Microphthalmia, Syndromic 6	Failure to thrive, Posteriorly rotated ears, Uplifted earlobe, Protruding ear, Low-set ears, Macr...	OMIM:607932
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Brain abscess, Thrombocytopenia	ORPHA:544482
Insulin-Resistance Syndrome Type B	Leukopenia, Thrombocytopenia	ORPHA:2298
1P21.3 Microdeletion Syndrome	Long ear, Short nose, Obesity, Broad nasal tip	ORPHA:293948
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Neu-Laxova Syndrome 1	Wide nose, Absent eyelashes, Depressed nasal ridge, Low-set ears, Macrotia	OMIM:256520
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Pigmentary retinopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Small for gestational age, Narrow nasal ridge, Recurrent pancreatitis, Low-set...	OMIM:606721
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis	ORPHA:3384
Bartter Syndrome, Type 2, Antenatal	Failure to thrive, Macrotia, Small for gestational age	OMIM:241200
Charge Syndrome	Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Postnatal growth r...	OMIM:214800
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline, Wide nasal bridge	OMIM:618569
Lysinuric Protein Intolerance	Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	ORPHA:470
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Focal Dermal Hypoplasia	Narrow nasal bridge, Ridged nail, Mixed hearing impairment, Cleft ala nasi, Brittle hair, Supernu...	OMIM:305600
Noonan Syndrome 10	Left ventricular hypertrophy, Curly hair, Low-set ears, Sparse eyebrow	OMIM:616564
Cerebellofaciodental Syndrome	Sparse eyebrow, Low-set ears, Fine hair	OMIM:616202
Blomstrand Lethal Chondrodysplasia	Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:50945
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hearing impairment, Cupped ear, Wide nasal bridge, Overfolded helix, Short nose, Aplasia/Hypoplas...	OMIM:609945
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip ...	ORPHA:2907
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Van Esch-O'Driscoll Syndrome	Short nose, Microtia, Depressed nasal bridge, Protruding ear	OMIM:301030
Townes-Brocks Syndrome	Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Short stature, Preaxial hand polydactyly,...	ORPHA:857
Occipital Horn Syndrome	Pelvic bone exostoses, Bladder carcinoma, Coarse hair, Pili torti, Convex nasal ridge, Exostoses	OMIM:304150
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose, Sensorineural hearing impairment	OMIM:614863
Cardiac-Urogenital Syndrome	Tracheomalacia, Tachycardia	OMIM:618280
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Supernum...	OMIM:601803
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair	OMIM:614099
Woodhouse-Sakati Syndrome	Alopecia, Prominent nasal bridge, Sensorineural hearing impairment, Protruding ear, Fine hair, Sp...	OMIM:241080
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Small earlobe, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Long nose, Hypoplasti...	OMIM:619522
Menkes Disease	Hypopigmentation of hair, Prolonged neonatal jaundice, Sparse hair, Woolly hair, Exostoses	ORPHA:565
Phocomelia, Schinzel Type	Short nose, Nail dysplasia, Protruding ear	ORPHA:2879
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Anteverted nares, Sparse eyelashes, Prominent nose, Sparse eyebrow, Fine hair,...	OMIM:210710
Acromesomelic Dysplasia 1	Short nose, Short nail	OMIM:602875
Robinow Syndrome, Autosomal Dominant 1	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Long eyela...	OMIM:180700
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Cachexia, Sensorineural hearing impairment, Depressed n...	ORPHA:828
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Protruding ear, Low-set ears, Short nose, Abnormality of the outer ear	OMIM:618820
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Posteriorly rotated ears, Protruding ear, Short columella, Low-set ears, Short nose, Hearing impa...	OMIM:601776
Occipital Horn Syndrome	Thick hair, Jaundice, Hepatitis, Cholestasis, Abnormality of the sense of smell, Coarse hair, Exo...	ORPHA:198
Pmm2-Cdg	Anteverted nares, Prominent nasal bridge, Abnormal pinna morphology, Prominent nose, Macrotia, Ab...	ORPHA:79318
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose	OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Omodysplasia 1	Short nose, Depressed nasal bridge, Wide nasal bridge, Hemangioma	OMIM:258315
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Depressed nasal bridge, Anteverted nares, Failure to thrive in inf...	OMIM:194050
Pontocerebellar Hypoplasia Type 7	Macrotia, Depressed nasal bridge, Wide nasal bridge	ORPHA:284339
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Fa...	OMIM:124000
Geleophysic Dysplasia 2	Hepatomegaly, Short nose	OMIM:614185
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair, Hypoplasia of the nasal bone	OMIM:118650
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Protruding ear, Prominent nasal tip...	OMIM:620330
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Unilateral deafness, Synophrys, Cupped ear, Anterior creases...	OMIM:619539
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Wide nasal bridge, Thick eyebrow	ORPHA:73223
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Short columella, Con...	ORPHA:709
Acute Liver Failure	Thrombocytopenia	ORPHA:90062
Chand Syndrome	Curly hair, Depressed nasal bridge, Nail dysplasia	ORPHA:1401
Leptospirosis	Thrombocytopenia	ORPHA:509
Vascular Ehlers-Danlos Syndrome	Narrow nasal bridge, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Vertigo,...	ORPHA:286
Alström Syndrome	Hepatic fibrosis, Otitis media, Severe sensorineural hearing impairment, Hepatic steatosis, Hepat...	ORPHA:64
Penile Agenesis	Posteriorly rotated ears, Short nose, Depressed nasal bridge	ORPHA:49

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 Kmt2a

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 Kmt2a.

No publications found that use IMPC mice or data for Kmt2a.

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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
Kmt2a^{tm40303(pL1L2_frt15_BetactinBSD_frt14_neo_Rox)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Kmt2a^{tm40303(L1L2_gt0_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Kmt2a^{em1(IMPC)Marc}	Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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