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Gene: Spred1 MGI:2150016

Gene Summary

Name:

sprouty protein with EVH-1 domain 1, related sequence

Synonyms:

5730461F13Rik, Spred-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
abnormal ovary morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased freezing behavior	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.93×10^-12
increased memory-marker CD4-positive NK T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.85×10^-12
abnormal spleen morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal head size	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.39×10^-21
abnormal head morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.27×10^-20
hydrocephaly	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating alkaline phosphatase level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.25×10^-29
abnormal heart morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	9.48×10^-06
increased neutrophil cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.81×10^-10
abnormal thymus morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.13×10^-12
decreased grip strength	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.64×10^-05
increased spleen weight	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.88×10^-24
tremors	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	9.58×10^-12
abnormal retina morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.40×10^-07
abnormal brain morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased locomotor activity	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.06×10^-06
enlarged spleen	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased effector memory T-helper cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.42×10^-06
anophthalmia	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
fusion of vertebral arches	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.15×10^-06
abnormal tooth morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.72×10^-15
abnormal cranium morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.16×10^-11
increased effector memory CD8-positive, alpha-beta T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.22×10^-05
vertebral fusion	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.27×10^-05
abnormal vertebrae morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.72×10^-05
abnormal startle reflex	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	8.75×10^-05
abnormal lymph node morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased body weight	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.55×10^-05
abnormal zygomatic bone morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	8.73×10^-17
small seminal vesicle	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skin coloration	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.97×10^-10
abnormal bone structure	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal mandible morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.46×10^-08
abnormal snout morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.85×10^-07
increased circulating potassium level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.16×10^-05
abnormal maxilla morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.25×10^-14
increased circulating alanine transaminase level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.79×10^-05
increased CD4-positive NK T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.46×10^-12
increased NK T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.95×10^-10
decreased lymphocyte cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.41×10^-08
enlarged heart	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skin morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal vertebral arch morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.21×10^-05
increased thigmotaxis	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.59×10^-05
abnormal seminal vesicle morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal auditory brainstem response	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.01×10^-16

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Human diseases caused by Spred1 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 Spred1 (2 diseases)
Human diseases predicted to be associated with Spred1 (1838 diseases)

The table below shows human diseases associated to Spred1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Legius Syndrome		Inguinal freckling, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Axil...	OMIM:611431
Legius Syndrome		Hyperactivity, Inguinal freckling, Acute monocytic leukemia, Axillary freckling, Ovarian neoplasm...	ORPHA:137605

The table below shows human diseases predicted to be associated to Spred1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency 88	Asthma, Eosinophilia	OMIM:619630
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Ichthyosis-Prematurity Syndrome	Neonatal respiratory distress, Eosinophilia	ORPHA:88621
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu...	OMIM:617638
Immunodeficiency 32B	Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Increased circulating IgE level, Wheezing, Asthma, Leukoc...	ORPHA:2902
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Tremor, Widely spaced p...	ORPHA:90321
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Hepatomegaly, Microcephaly, Hydrocephalus, Flexion contracture, Optic atrophy,...	OMIM:300884
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,...	ORPHA:724
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Allergic rhinitis	ORPHA:26137
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Flexion contracture, Widely spaced primary teeth, Hypoplasia...	ORPHA:90322
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De...	ORPHA:169154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor...	OMIM:606612
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Increased circulat...	ORPHA:169160
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atrium, W...	OMIM:615524
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalu...	OMIM:269920
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Short neck, Abnormality of the spleen, Chorea, Deep philtrum, ...	ORPHA:2162
Myopathy With Extrapyramidal Signs	Tented upper lip vermilion, Elevated circulating creatine kinase concentration, Clonus, Short nec...	OMIM:615673
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho...	ORPHA:2332
Aarskog-Scott Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of f...	ORPHA:915
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia	OMIM:610247
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Incre...	OMIM:243700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Failure to thrive sec...	OMIM:608971
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Peeling Skin Syndrome 1	Asthma, Increased circulating IgE level, Eosinophilia	OMIM:270300
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Increased CSF lactate, Choreoath...	OMIM:612126
Trisomy 13	Anophthalmia, High, narrow palate, Atrial septal defect, Cryptorchidism, Aplasia/Hypoplasia of th...	ORPHA:3378
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Bronchiectasis	OMIM:618523
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Ventricular ...	OMIM:615583
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy, Anorexia, Weight loss	ORPHA:52416
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Ventriculomegaly, Failure to thrive in infancy...	ORPHA:858
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Mirage Syndrome	Hyponatremia, Lymphopenia, Hypergonadotropic hypogonadism, Hypospadias, Radial club hand, Cryptor...	OMIM:617053
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi...	ORPHA:377
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Abnormal repetitive mannerisms, Hydrocephalus, Attention deficit hyperactiv...	OMIM:618709
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Aspergillosis	Sinusitis, Pneumonia, Eosinophilia, Dyspnea, Asthma, Increased circulating IgE level, Chronic pul...	ORPHA:1163
Cohen Syndrome	Bone spicule pigmentation of the retina, Thoracic scoliosis, Decreased response to growth hormone...	OMIM:216550
Immunodeficiency 97 With Autoinflammation	Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E...	OMIM:619802
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Microcephaly, Abnormal heart morphology, Azoospermia, EEG abnormality, ...	ORPHA:1445
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Pancytopenia, Sandwich appearance of vertebral bodi...	OMIM:259700
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Microceph...	OMIM:613885
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Recurrent pneumonia, Cutaneous abscess	OMIM:147060
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Koolen-De Vries Syndrome	Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segmentation defect, Microd...	ORPHA:96169
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Microcephaly, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Atypical Teratoid Rhabdoid Tumor	Cerebral palsy, Ataxia, Hemiplegia/hemiparesis, Hydrocephalus, Limitation of joint mobility, Irri...	ORPHA:99966
Igg4-Related Aortitis	Increased circulating IgG4 level, Asthma, Increased circulating IgE level, Hypereosinophilia, Wei...	ORPHA:449400
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Cherry red spot of the macula, Failure to thrive, H...	ORPHA:796
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Microcephaly, Tremor, Splenomegaly, CSF pleocytosis, Rigidity, In...	OMIM:615010
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Congenital Disorder Of Glycosylation, Type Ie	Smooth philtrum, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle ...	OMIM:608799
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circul...	OMIM:602450
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ...	OMIM:193700
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov...	OMIM:300280
Autoinflammation, Immune Dysregulation, And Eosinophilia	Asthma, Failure to thrive, Eosinophilia, Hepatosplenomegaly	OMIM:618999
Netherton Syndrome	Failure to thrive, Allergic rhinitis, Asthma, Increased circulating IgE level, Hypereosinophilia,...	OMIM:256500
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Inability to walk, Prominent ear helix, Multifocal epilep...	ORPHA:411986
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Clonus, Micrognathia, Hypertonia, Hypocalcemia, Hepatomegaly, Incre...	OMIM:259720
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B...	OMIM:213980
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosin...	OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Lymphopenia, Sinusitis, Severe B lymphocytopenia, Pneumonia, A...	OMIM:102700
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Micrognathia, Microcephaly, Splenomegaly, Flexion contracture, Multifocal epileptif...	OMIM:608540
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Facial pals...	ORPHA:53
Cockayne Syndrome A	Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormality of skin ...	OMIM:216400
Microphthalmia With Limb Anomalies	Sacral dimple, Anophthalmia, Unilateral cryptorchidism, Posteriorly rotated ears, Cleft upper lip...	OMIM:206920
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Micrognathia, Orbital craniosynostosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor...	ORPHA:2590
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Protruding ear, Abnormal optic nerve ...	ORPHA:899
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Neoplasm ...	ORPHA:543
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormality of skin pigmentation, S...	ORPHA:193
Eosinophilic Gastroenteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Asthma, Weight loss, Anemia	ORPHA:2070
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Tetralogy of Fallot, Hypertonia, Att...	ORPHA:250994
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Fried Syndrome	Aggressive behavior, Hydrocephalus, Spastic diplegia, Gait disturbance, Abnormal optic nerve morp...	ORPHA:85335
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Sterile absce...	OMIM:618282
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Optic nerve hyp...	OMIM:609053
Cockayne Syndrome B	Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the ir...	OMIM:133540
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth...	OMIM:194190
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Enlarged ...	OMIM:209950
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Micrognathia, Tremor, Short neck, Flexion contracture, Choreoathetosis, High palate, Male hypogon...	OMIM:300055
Roifman Syndrome	Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Decr...	ORPHA:353298
Gm1 Gangliosidosis	Mandibular prognathia, Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Cherr...	ORPHA:354
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Failure t...	ORPHA:90045
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Microcephaly,...	OMIM:619470
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi...	OMIM:304790
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver...	OMIM:113000
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure to thrive	OMIM:615387
Lateral Meningocele Syndrome	Bicuspid aortic valve, Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing...	OMIM:130720
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Postural tremor, Hydrocephalus, Inability to walk by childhood/adolescence, Optic ...	ORPHA:99947
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg...	OMIM:617514
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Wide nasal bridge, Thrombocytopenia	OMIM:209970
Carpenter Syndrome 1	External genital hypoplasia, Micrognathia, Hypoplasia of the maxilla, Short neck, High palate, At...	OMIM:201000
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS...	OMIM:610333
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Micrognathia, Epispadias, Vitritis, Abnormality of skin pi...	ORPHA:2556
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati...	OMIM:612852
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive	OMIM:617585
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Progressive Supranuclear Palsy	Impulsivity, Unsteady gait, Depression, Abnormal synaptic transmission, Dementia, Falls, Cognitiv...	ORPHA:683
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Sensorineural ...	OMIM:611762
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Allergic rhinitis, Abscess, Eosinophilia, Asthma, Increased ...	OMIM:615816
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Abnormal dental morphology, Malar prominence, Short neck, Micrognathia, Hyperlordosi...	ORPHA:2522
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Biconvex vertebral bodies, Retinal dystrophy, Ventric...	OMIM:616651
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Open mouth, Mandibular hyperostosis, Spinal canal stenosis, Depigme...	OMIM:176920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 1	Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H...	OMIM:267700
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Pneumonia, Eosinophilia, Acute lymphoblastic leukemia, M...	ORPHA:486
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Neutropenia, Hyperammonemi...	ORPHA:79312
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegaly, Inability to wal...	OMIM:257200
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Posteriorly rotated ears, Elevated circulating C-reactive protein concentr...	OMIM:619750
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Myoclonus, Hy...	OMIM:610539
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Abnormal repe...	OMIM:618342
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Accelerated skeletal maturation, Obesity, Hyp...	OMIM:620270
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Decreased motor nerve conduction velocity, Decreased sensory ne...	ORPHA:206594
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Micrognathia, Cryptorchidism, Bilateral microphthalmos, ...	OMIM:601186
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Short neck, Open bite, Splenomega...	ORPHA:61
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morp...	ORPHA:2345
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability, Microcephaly	OMIM:251250
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Atrial septal defect, V...	OMIM:610443
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical...	ORPHA:1802
Kniest Dysplasia	Arthropathy, Rhegmatogenous retinal detachment, Enlarged joints, Short neck, Delayed epiphyseal o...	ORPHA:485
Cinca Syndrome	Joint dislocation, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive prot...	ORPHA:1451
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s...	OMIM:613101
Proteus-Like Syndrome	Mandibular prognathia, Retinal detachment, Thymus hyperplasia, Communicating hydrocephalus, Genu ...	ORPHA:2969
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad...	ORPHA:100024
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Hydrocephalus, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocyt...	OMIM:619302
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Sensorineural hearing impairmen...	OMIM:256550
Hurler Syndrome	Short neck, Abnormal pyramidal sign, Abnormality of skin pigmentation, Endocardial fibroelastosis...	ORPHA:93473
Otopalatodigital Syndrome Type 2	Micrognathia, Glossoptosis, Oligodontia, Abnormal vertebral segmentation and fusion, Synostosis o...	ORPHA:90652
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ...	OMIM:603554
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tremor, H...	OMIM:218000
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Micrognathia, Microcephaly, Optic atrophy, Fused cervical vertebrae, Thora...	ORPHA:530983
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Omenn Syndrome	Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morph...	ORPHA:39041
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Failure to thrive, Pancytopenia, Ventricular septal defect, Elevated circulating cr...	OMIM:614576
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In...	OMIM:617388
Gaucher Disease	Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Tremor, Ost...	ORPHA:355
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anor...	ORPHA:507
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	OMIM:214800
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture...	OMIM:230000
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Micrognathia, Cryptorchidism, Hydrocephalus, Sub...	ORPHA:2189
Griscelli Syndrome	Encephalocele, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocep...	ORPHA:381
Activated Pi3K-Delta Syndrome	Hepatomegaly, Microcephaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B ly...	ORPHA:397596
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Protruding ear, Iron deficiency anemia, High palate, Ab...	ORPHA:93315
Meckel Syndrome	Anophthalmia, Micrognathia, Asplenia, Dandy-Walker malformation, Accessory spleen, Encephalocele,...	ORPHA:564
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Hepatomegaly, Ventricular septal defect, Joint hypermobility, Joint stiffness,...	OMIM:620210
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Hyponatremia, Orthostatic hypotension, ...	ORPHA:199299
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Lethargy, Generalized bronze hyperpigmen...	ORPHA:465508
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Broad-based gait, Hyperactivity, Lower limb spasticity, Parkinsonism, Kyphoscolio...	ORPHA:3077
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Posteriorly rotated ears, Micrognathia, Precocio...	OMIM:616222
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ventriculomegaly, Ataxia, Joint stiffness, Protruding tongue, Splenomegaly, Narrow ...	OMIM:230600
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Hearing impairment, Elbow dislocation, Hypoplastic frontal sinuse...	ORPHA:90650
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Sco...	OMIM:601382
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy, Wid...	OMIM:300983
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Ataxia, Exaggerated cupid's...	OMIM:619833
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Irregular dentition, Ataxia, Macular coloboma, Macular atrophy...	OMIM:619260
Felty Syndrome	Hepatomegaly, Pericarditis, Sinusitis, Generalized hyperpigmentation, Splenomegaly, Thrombocytope...	ORPHA:47612
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Ataxia, Dental crowding, Kyphoscoliosis, Splenomegaly, I...	OMIM:616354
48,Xxyy Syndrome	Hypoplasia of penis, Tremor, Abnormal repetitive mannerisms, Ataxia, Abnormal dental enamel morph...	ORPHA:10
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, Thrombocytopenia, Lumbar kyphosis, Leukopenia, Hyperton...	OMIM:620184
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Hypoproteinemia, Ataxia, Hep...	OMIM:603553
Loeffler Endocarditis	Dyspnea, Weight loss, Eosinophilia, Cough	ORPHA:75566
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, P...	OMIM:607115
Hemochromatosis, Type 1	Arthropathy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased c...	OMIM:235200
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Cleft palate, Mi...	OMIM:164180
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormality of the dentition, Hydrocephalus, Gingivitis, Melanocytic nevus, EEG abnormality, Peri...	ORPHA:1008
Trisomy 1Q	Microretrognathia, Small scrotum, Ventricular septal defect, Anophthalmia, Camptodactyly of finge...	ORPHA:261344
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Carious teeth, Crypto...	ORPHA:2701
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Chorea, Bone pain, Limitation of joint mobility, Acute leukemia, Reduce...	ORPHA:2770
Charge Syndrome	Bifid scrotum, Anophthalmia, Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular c...	ORPHA:138
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Kyphosis, Delayed skeletal maturation, Slurred speech, Wide nasal b...	ORPHA:812
Birk-Landau-Perez Syndrome	Dystonia, Failure to thrive in infancy, Camptocormia, Microcephaly, Optic atrophy, Hyperkalemia, ...	OMIM:617595
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom...	OMIM:611638
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Gait disturbance, Cubi...	ORPHA:1875
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis, Ascites,...	ORPHA:87876
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydroc...	ORPHA:77298
Optic Atrophy 11	Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Micro...	OMIM:617302
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Flexion contracture, Abnormal pyramidal sign, Abnormal form of the ver...	ORPHA:581
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Cardiomegaly, Micrognathia, Short neck, Multiple prenatal fractures, Flexion contract...	OMIM:616897
Intellectual Developmental Disorder, Autosomal Dominant 52	Bilateral cryptorchidism, Pica, Downturned corners of mouth, High palate, Short philtrum, Abnorma...	OMIM:617796
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Microcephaly, Cryptor...	ORPHA:1926
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Vertebral segmentation defect, Hypoplasti...	OMIM:618845
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Kyp...	OMIM:109400
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defec...	OMIM:300166
Gaucher Disease, Perinatal Lethal	Cardiomegaly, Micrognathia, Opisthotonus, Hepatomegaly, Hepatosplenomegaly, Microtia, Low-set ear...	OMIM:608013
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Absent brainstem auditory responses, External genital hypoplasi...	ORPHA:79330
Mend Syndrome	Micrognathia, Elevated 8(9)-cholestenol, High palate, Dandy-Walker malformation, Hyperactivity, A...	ORPHA:401973
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Hypertonia, Abn...	ORPHA:192
Stickler Syndrome Type 1	Retinal detachment, Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, ...	ORPHA:90653
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Hyperkalemi...	OMIM:620366
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Microtia, third degree, Spina bifida, Micrognathia, Aqueduct...	ORPHA:3412
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Elevated circulating creatine kinase concentration, Facial palsy, Microcephaly...	OMIM:613155
B4Galt1-Cdg	Hepatomegaly, Thin upper lip vermilion, Small for gestational age, Elevated circulating creatine ...	ORPHA:79332
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Tremor, Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Gait dis...	ORPHA:100
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Hyperpigmentation of the skin, Increased circulating ferritin conc...	OMIM:604250
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Platyspondyly, Scoliosis, Rod-cone dystroph...	OMIM:602271
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated s...	ORPHA:373
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Aicardi Syndrome	Protruding ear, Abnormality of skin pigmentation, Hypertonia, Short philtrum, Chorioretinal colob...	ORPHA:50
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal pyramidal sign, Abnormal motor evoked potentials, Thoracic kyphosis, Prematu...	ORPHA:909
Ravine Syndrome	Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure...	ORPHA:99852
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Microcephaly, Hydrocephalus, Osteoporosis, Hy...	ORPHA:2169
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Immunodeficiency 54	Hepatomegaly, Microcephaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Fa...	OMIM:609981
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hyp...	OMIM:115150
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Joi...	OMIM:609029
Hemochromatosis, Type 2B	Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Akinesia, Micrognathia, Multipl...	OMIM:253290
Trisomy 10P	Micrognathia, Hemivertebrae, Orofacial cleft, EEG with focal spikes, High palate, Abnormal hip jo...	ORPHA:171929
Cowden Syndrome 1	Hearing impairment, Micrognathia, Goiter, Hypoplasia of the maxilla, Kyphosis, Angioid streaks of...	OMIM:158350
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl...	ORPHA:861
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci...	ORPHA:97360
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb...	OMIM:178110
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Joint stiffness, Ov...	OMIM:252920
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis...	OMIM:618577
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Lymphadenopa...	ORPHA:37748
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Gingival overgrowth, Choreoathetosis, Lumbar k...	OMIM:619422
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Sensorin...	ORPHA:93476
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, M...	OMIM:614886
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Dyspnea, Weight loss, Interstitial pneumonitis, Lymphocytosis, Cough	ORPHA:139402
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Retinal detachment, Failure to thrive, Hyponatremia, Optic nerve hypoplasi...	OMIM:620157
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma	OMIM:616428
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Mulibrey Nanism	Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,...	OMIM:253250
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Late-Infantile/Juvenile Krabbe Disease	Tremor, Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Loss of ambulati...	ORPHA:206443
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Spastic paraplegia, ...	OMIM:303350
Edinburgh Malformation Syndrome	Accelerated skeletal maturation, Hydrocephalus, Jaundice, U-Shaped upper lip vermilion, Failure t...	OMIM:129850
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:86893
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Hearing impairment, Micrognathia, Cryptorchidism, Ky...	ORPHA:1724
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Vici Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Albinism, Leukopenia, T lymphoc...	OMIM:242840
Mucopolysaccharidosis Type 1	Joint dislocation, Sinusitis, Abnormal form of the vertebral bodies, Widely spaced teeth, Microdo...	ORPHA:579
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Craniosynostosis, Micrognathia, Spastic tetraparesis, Cryptorchidism, Hydrocephalus,...	ORPHA:171839
Hsd10 Disease, Infantile Type	Restlessness, Spastic tetraparesis, Cardiomegaly, Microcephaly, Poor coordination, Optic atrophy,...	ORPHA:391428
Lujan-Fryns Syndrome	Atrial septal defect, Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the m...	ORPHA:776
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopen...	ORPHA:277
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Ataxia, Cachexia, Anorex...	ORPHA:3452
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteo...	ORPHA:98850
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Joint laxity, Hyperactivity, Hypospadias, Abnormal pinna morphology, Aggre...	OMIM:300354
Intellectual Developmental Disorder, Autosomal Recessive 48	Mandibular prognathia, Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropria...	OMIM:616269
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Wells Syndrome	Eosinophilia	ORPHA:901
Fibular Hemimelia	Joint laxity, Anophthalmia, Decreased hip abduction, Craniosynostosis, Spina bifida, Joint stiffn...	ORPHA:93323
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec...	OMIM:139210
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia	ORPHA:2807
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn...	ORPHA:2470
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp...	ORPHA:2686
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Microcephaly, Flexio...	OMIM:616549
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Desmosterolosis	Micrognathia, Hypertonia, Bifid uvula, Low-set, posteriorly rotated ears, Increased bone mineral ...	ORPHA:35107
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Elevated...	ORPHA:100083
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Ethanolaminosis	Cardiomegaly	OMIM:227150
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, Cryptorchidism, Microcep...	ORPHA:85279
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Optic atrophy, Tet...	OMIM:616034
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Sacral dimple, Craniosynostosis, Short neck, Micrognathia, Hydrocephalus, Wide nasal bridge, Shor...	ORPHA:1516
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph...	OMIM:101800
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Splenomegaly, Self-injurious behavior, High palate, Retrogna...	OMIM:615637
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul...	OMIM:228000
Chediak-Higashi Syndrome	Tremor, Gingivitis, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmen...	OMIM:214500
Emanuel Syndrome	Congenital hip dislocation, Multiple joint contractures, Dental crowding, Micrognathia, High pala...	ORPHA:96170
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Protruding ear, Inc...	ORPHA:481152
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener...	ORPHA:508498
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Smooth philtrum, Ventricular septal defect, Hydrocephalus, Large earlobe, Microphth...	OMIM:602501
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Downturned corners of mo...	ORPHA:955
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Failure to thrive, Absence of CD8-positive T cells	OMIM:269840
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Mitral valve prola...	OMIM:601216
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Shor...	ORPHA:567
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Back pain, Bicuspid aortic valve, Clonus, High, narrow palate, Abnormal curvature ...	OMIM:619475
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Ataxia, Microcephaly, Conjugated hyperbilirubinemia, Splenomegaly...	OMIM:608885
Lowry-Maclean Syndrome	Osteopenia, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, High, narrow palat...	ORPHA:2409
Cystic Echinococcosis	Abscess, Eosinophilia, Asthma, Weight loss, Increased circulating antibody level, Splenic cyst, P...	ORPHA:400
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Recurrent sinusiti...	OMIM:620282
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Clitoral hy...	OMIM:268310
Triploidy	Hypoplasia of penis, Micrognathia, Short neck, Holoprosencephaly, Decreased skull ossification, L...	ORPHA:3376
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Delayed skeletal maturation, Cholestasis, Reduced bone mine...	ORPHA:172
3C Syndrome	Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial clef...	ORPHA:7
Trimethylaminuria	Splenomegaly, Depression, Anemia, Neutropenia	OMIM:602079
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Hypopigmentation of the skin, Abnorma...	ORPHA:167
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrot...	OMIM:306955
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Posteriorly rotated ears, Joint hypermobility, Supernumerary nipple,...	OMIM:619951
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Hypoammonem...	ORPHA:534
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, T lymphocytopenia, Irregular vertebral endplates, Neutropenia, Ju...	OMIM:607944
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Sensorineural hearing impairme...	OMIM:619046
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Hypopigmented skin patches, Lymphadenopathy, Irregular hyperpigmentat...	ORPHA:2584
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Micrognathia, Tremor, Oral-pharyngeal dysphagia, Microcephaly, Prominen...	ORPHA:480907
Rhabdoid Tumor	Cerebral palsy, Hypercalcemia, Lymphadenopathy, Anemia, Weight loss, Neoplasm of the liver, Irrit...	ORPHA:69077
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Hurler Syndrome	Short neck, Flexion contracture, Endocardial fibroelastosis, Microdontia, Retinal degeneration, H...	OMIM:607014
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur...	ORPHA:52368
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Micrognathia, Abnormality of the spleen, Hydrocephalus, Ging...	ORPHA:1834
Fryns Microphthalmia Syndrome	Anophthalmia, Bilateral cleft lip and palate, Neural tube defect, Abnormality of the vertebral co...	OMIM:600776
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract...	OMIM:265000
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Bone pain, Osteolysis, Lymphadenopathy, Weight loss...	ORPHA:391
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Se...	OMIM:109120
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis, Tremor, Cryptorchidism, Sensorineural hearing impairment, Limitation of joint mobi...	ORPHA:1192
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Aplasia/Hypoplasia of the patella, Sensorineural...	ORPHA:3320
Fg Syndrome Type 1	Dental crowding, Micrognathia, Generalized joint laxity, Fused teeth, High palate, Compulsive beh...	ORPHA:93932
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micrognathia, Short neck, Abnormally large globe, High palate, Abnormality of the uterus, Hypocal...	ORPHA:1655
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	EEG with burst suppression, Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde co...	OMIM:266100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Opisthotonus, T ...	ORPHA:508533
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Obesity, ...	OMIM:615630
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Micrognathia, Tremor, Cryptorchidism, Aggressive behavior, Microce...	OMIM:300978
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Hypermelanotic macule, Abnormal prima...	ORPHA:1830
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ...	ORPHA:94093
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Hemivertebrae, Wide nasa...	ORPHA:2180
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Ataxia, Splenomegaly, Abnormal pyramidal sign, Reduce...	ORPHA:834
Addison Disease	Hypoparathyroidism, Normocytic anemia, Hyponatremia, Primary testicular failure, Salt craving, Hy...	ORPHA:85138
Angelman Syndrome	Mandibular prognathia, Broad-based gait, Hyperactivity, Ataxia, Protruding tongue, Hypoplasia of ...	OMIM:105830
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst...	OMIM:617013
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Progressive alveolar...	OMIM:252500
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pitu...	OMIM:206900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micrognathia, Short neck, High palate, Hypocalcemia, Micropenis, Hepatomegaly, Thyroid lymphangie...	OMIM:235255
Pontocerebellar Hypoplasia, Type 7	Micrognathia, Deep philtrum, Opisthotonus, Choreoathetosis, Hypertonia, High palate, Tongue fasci...	OMIM:614969
Ataxia-Telangiectasia	Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor...	OMIM:208900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Chorea, Decreased CSF biopterin lev...	ORPHA:404454
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog...	ORPHA:580
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Vertebral clefting, Cleft palate, To...	ORPHA:1248
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Micrognathia, Microcephaly, Splenomegaly, Thin vermilion border...	ORPHA:1046
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Facial palsy, Tremor, Dysphagia, Tongue fasci...	OMIM:159950
Larsen Syndrome	Cervical kyphosis, Knee dislocation, Conductive hearing impairment, Atrial septal defect, Spina b...	OMIM:150250
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Dysmetria, Abnormal optic disc m...	ORPHA:96121
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Hypergalactosemia, Failur...	OMIM:230350
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Camptodactyly of ...	ORPHA:1106
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Small for gestational age, Spastic tetraparesis, Hearing impairment, H...	OMIM:614261
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl...	OMIM:615924
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Avascular necrosis, Hepatom...	ORPHA:1775
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Non-midline cleft lip, Aplasia/Hyp...	ORPHA:1104
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair...	ORPHA:3226
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Ataxia, Splenomegaly, Sensorineural hearing...	OMIM:615636
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste...	ORPHA:1304
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Gaucher Disease Type 1	Osteopenia, Anorexia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract ob...	ORPHA:77259
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Microcephaly, Tremor, Inability to walk, Retrognathia, Wide nasal bridge, Large fleshy ea...	OMIM:619556
Diaphanospondylodysostosis	Short neck, Myelomeningocele, Cleft palate, Absent or minimally ossified vertebral bodies, Abnorm...	ORPHA:66637
Martsolf Syndrome 1	Enlarged sylvian cistern, Thoracic scoliosis, Clonus, Micrognathia, Hypoplasia of the maxilla, Hi...	OMIM:212720
Caspase 8 Deficiency	Splenomegaly, Failure to thrive, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:607271
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Hypoplasia of the ...	OMIM:305400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu...	OMIM:611590
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Pettigrew Syndrome	Mandibular prognathia, Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Microcephaly, ...	OMIM:304340
Zimmermann-Laband Syndrome	Hepatomegaly, Generalized hyperpigmentation, Abnormal external genitalia, Micrognathia, Short nec...	ORPHA:3473
Duane Retraction Syndrome	Optic disc hypoplasia, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Chorioret...	ORPHA:233
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenop...	ORPHA:79477
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the m...	OMIM:180849
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Tremor, Elevated circulating phytanic acid concentration,...	OMIM:614307
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Wilson Disease	Back pain, Bone pain, Increased body weight, Acute hepatitis, Hepatic steatosis, Hepatomegaly, Hy...	ORPHA:905
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, W...	ORPHA:171876
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnorm...	OMIM:309900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Camurati-Engelmann Disease	Anorexia, Craniofacial osteosclerosis, Bone pain, Cortical thickening of long bone diaphyses, Leu...	ORPHA:1328
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypopl...	ORPHA:79345
Atypical Rett Syndrome	Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, EEG abnormality,...	ORPHA:3095
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Profound hearing impairment, Mi...	OMIM:619418
Poikiloderma With Neutropenia	Joint laxity, Elevated circulating creatine kinase concentration, Micrognathia, Carious teeth, Sp...	OMIM:604173
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
Krabbe Disease	Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, E...	OMIM:245200
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Accelerated skeletal maturation, Hypoplasia of ...	ORPHA:950
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Multiple small vertebral fractures, Premature loss of teeth, Platyspon...	OMIM:156510
Chops Syndrome	Ventricular septal defect, Thickened helices, Microcephaly, Splenomegaly, Cryptorchidism, High, n...	OMIM:616368
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cerebrooculonasal Syndrome	Anophthalmia, Downturned corners of mouth, High palate, Conductive hearing impairment, Dandy-Walk...	OMIM:605627
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation	OMIM:607091
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inabil...	OMIM:617864
Graft Versus Host Disease	Dupuytren contracture, Limited elbow movement, Trismus, Jaundice, Stiff interphalangeal joints, O...	ORPHA:39812
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Hepatomegaly, Splenomegaly, Increased vertebral height, Vacuolated lymphoc...	OMIM:248500
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Decrea...	ORPHA:93950
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Sclerotic vertebral body, Ataxia, Tented upper lip vermilion, Rigidity, Kyphosi...	OMIM:618476
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Small for gestational age, Decreased response to growth hormone stimulation test,...	OMIM:609757
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Cryptorchidism, Facet joint arthrosis, ...	OMIM:618000
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, ...	OMIM:617675
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Temple Syndrome	Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati...	ORPHA:254516
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Hypoplastic frontal s...	OMIM:136760
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Back pain, Thoracic kyphoscoliosis, Small for gestational age, Ky...	OMIM:613330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Atrial septal de...	ORPHA:505248
Noonan Syndrome 12	Ventriculomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation tes...	OMIM:618624
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T ce...	ORPHA:98813
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Impulsivity, Aggressive behavior, Hypoplasia of the maxi...	ORPHA:293939
Hyperkalemic Periodic Paralysis	Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina...	ORPHA:682
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Abnormal verte...	OMIM:244600
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim...	ORPHA:2388
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Micrognathia, Tremor, Generalized joint laxity, Delayed skeletal maturation, D...	ORPHA:502423
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Hypoplastic spleen, Decreased skull ossification, Ascites, Hypocalcemia,...	OMIM:602361
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Jacobsen Syndrome	Micrognathia, Short neck, Flexion contracture, Clitoral hypoplasia, Holoprosencephaly, Chorioreti...	OMIM:147791
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, R...	OMIM:150550
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Microcephaly, S...	ORPHA:2585
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Dextrocardia, Block vertebrae, Short neck...	OMIM:613686
Methylmalonic Acidemia With Homocystinuria	Microcephaly, Hydrocephalus, Gait disturbance, Lethargy, Failure to thrive, Retinopathy	ORPHA:26
Gaucher Disease Type 2	Hepatomegaly, Dystonia, Splenomegaly, Flexion contracture, Dysphagia, Spasticity	ORPHA:77260
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Vertebral fusion, Mixed hearing impairment, Block vertebrae,...	OMIM:272460
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Lumbar hyperlordosis, Opti...	ORPHA:370959
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Eosinophilia, Cough	ORPHA:2314
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural ...	OMIM:214300
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Abnormal tragus morphology,...	ORPHA:66625
Monosomy 18Q	Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Choreoathetosis, ...	ORPHA:1600
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Spastic Paraplegia 16, X-Linked	Restlessness, Lower limb spasticity, Hypoplasia of the maxilla, Babinski sign, Spastic paraplegia...	OMIM:300266
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Reduced bone mineral density, Sex reversal, Ambiguous genitalia, male, Increased circulating reni...	ORPHA:168558
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp...	ORPHA:231214
Fraser Syndrome 1	Anophthalmia, Dental crowding, Abnormal thymus morphology, Conductive hearing impairment, Micrope...	OMIM:219000
Mucopolysaccharidosis-Plus Syndrome	Short neck, Flexion contracture, Leukopenia, Chorioretinal hypopigmentation, Hypoalbuminemia, Mac...	OMIM:617303
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Mi...	OMIM:220210
H Syndrome	Hypertriglyceridemia, Hyperpigmentation of the skin, Recurrent fractures, Hearing impairment, Mic...	ORPHA:168569
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Reduced bone mineral density, Sex reversal, Ambiguous genitalia, male, Increased circulating reni...	ORPHA:289548
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	OMIM:309520
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Eosinophilia, Asthma, Respiratory insufficiency, Weight loss, Cough	ORPHA:183
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Optic atrophy, Protruding e...	OMIM:618737
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Micrognathia, High palate, L...	ORPHA:521426
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal...	OMIM:602535
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Dyspnea, Weight loss, Abnormal spleen morphology, Increased circulat...	ORPHA:284
Mucopolysaccharidosis, Type Vii	Short neck, Accelerated skeletal maturation, Flexion contracture, Widely spaced teeth, Anterior b...	OMIM:253220
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Micrognathia, Microcephaly, Cryptorchidism, Leuk...	ORPHA:99812
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla,...	OMIM:608149
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Periodontitis, Neutropenia, Hepatomegaly, Wide nasal br...	OMIM:608233
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
4H Leukodystrophy	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st...	ORPHA:289494
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, Tremor, High, narrow palate, High palate, Short philtrum, Conducti...	OMIM:619312
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy...	OMIM:618495
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Micrognathia, Short neck, Atrial septal defect, Micropenis, Dandy-Walker malformat...	OMIM:257300
Edinburgh Malformation Syndrome	Micrognathia, Accelerated skeletal maturation, Joint stiffness, Hydrocephalus, Downturned corners...	ORPHA:1895
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Dandy-Walker malformation, Block vertebrae, Spi...	OMIM:304050
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Hypopigmente...	ORPHA:207
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely...	ORPHA:363417
Shashi-Pena Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Accelerated skeletal maturation, Kyphosis, Cu...	OMIM:617190
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Failure to thrive, Ventricular septal defect, Short neck, Protruding tongue, Cryptorchidism, Hydr...	OMIM:612938
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorc...	ORPHA:1101
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Hepatomegaly, Atax...	OMIM:615688
Babesiosis	Hepatomegaly, Hemolytic anemia, Anorexia, Splenomegaly, Jaundice, Limitation of joint mobility, D...	ORPHA:108
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Abnormal oral cavity morphology	ORPHA:42642
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Male pseudohermaphroditism, Abnormal mes...	ORPHA:2075
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Low-set, posteriorly rotated ears...	ORPHA:1133
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Penoscrotal hypospadias, Hypospadias, Hyperpigmentation of the skin, Female externa...	ORPHA:90791
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Myoclonus, Decreased body weight, S...	OMIM:231000
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Inability to walk, Wrist swe...	OMIM:166300
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu...	OMIM:617052
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Tremor, Widely spaced teeth, Decreased body weight, Abnormal repetiti...	OMIM:619229
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil...	OMIM:615895
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia	ORPHA:293173
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bri...	OMIM:618302
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Ataxia, Protruding tongue, Hydrocephalus, Optic atrophy, G...	ORPHA:93400
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Joint laxity, Thin upper lip vermilion, Hypospadias, Abnormal dental ename...	ORPHA:439822
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2635
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Tremor, Widely spaced teeth, Hypopigmentation of the skin, Limitation of m...	ORPHA:98794
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,...	ORPHA:99027
Trisomy 17P	Hypoplasia of penis, Micrognathia, Short neck, Flexion contracture, Orofacial cleft, Hypertonia, ...	ORPHA:261290
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Kyphoscoliosis, Joint stiffness, Splenomegaly, Rod-cone dystrophy, O...	OMIM:252930
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Kyphoscoliosis, Cardiomegaly, Protruding tongue, Inability to walk, Abnorm...	ORPHA:324410
Legionnaires Disease	Hyponatremia, Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Jaundice, Hepatitis, End...	ORPHA:549
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, Abnormal pyramidal sign, Hypertonia, High palate, Contr...	OMIM:617527
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Macroglossia, Gingival overgrowth, Hepatosplenomegaly, Hypoplastic ...	ORPHA:79255
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Tremor,...	OMIM:601808
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, R...	ORPHA:667
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N...	OMIM:615285
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Cardiomegaly, Pericardial effusion, Large for gest...	OMIM:239850
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Increased body mass index, Small for gestational age, Microcephaly, Tremor, Cryptor...	OMIM:300957
Hennekam Syndrome	Abnormal oral mucosa morphology, Short philtrum, Hypocalcemia, Conductive hearing impairment, Abn...	ORPHA:2136
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Stiff neck, Cardiom...	OMIM:617022
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Kyphoscoliosis, Aggressive behavior, Microcephaly, Abnormality of the dentition, M...	ORPHA:391307
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concen...	ORPHA:50918
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Micrognathia, Hypertonia, Hypoalbuminemia, Holopro...	OMIM:270400
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Microcephaly, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Thoracic kyphosis, Myoc...	OMIM:619092
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Anorexia...	ORPHA:824
Transaldolase Deficiency	Short neck, Deep philtrum, Hepatic fibrosis, Short philtrum, Atrial septal defect, Patent foramen...	OMIM:606003
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Abnormal heart valve morphology, Short neck, Joint sti...	OMIM:230500
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthal...	OMIM:615085
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid v...	OMIM:242900
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Frequ...	OMIM:616719
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Abnormal for...	ORPHA:93262
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis, Cardiomegaly, Hydrocephalus, Spastic tetraplegia, Macroorchidism, Macrotia	OMIM:300886
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Small for gestational age, Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Dyspha...	OMIM:261640
Alexander Disease	Osteopenia, Clonus, Short neck, Tremor, Aqueductal stenosis, Chorea, Abnormal pyramidal sign, Hig...	ORPHA:58
Rosaï-Dorfman Disease	Paraplegia, Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Short neck, Abnormally large globe...	OMIM:245600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Exaggerated startle response, Elevated circulating creatine ki...	OMIM:253800
Dubowitz Syndrome	Abnormality of neutrophils, Micrognathia, Protruding ear, Abnormality of skin pigmentation, High ...	ORPHA:235
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Bilateral cryptorchidism, Carious teeth, Abdominal adhesions, Hypertoni...	OMIM:616395
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st...	OMIM:614480
Fanconi Anemia	Micrognathia, Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, Abnorma...	ORPHA:84
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Increased bone mineral density, Optic disc pallor, Reticulocytosis, Recurrent fract...	OMIM:611490
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Delayed ske...	OMIM:618440
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Inability to walk, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Hypsarrhythmia, EEG...	OMIM:618174
Alexander Disease Type I	Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Scoliosis, Dysphagia, Palat...	ORPHA:363717
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decre...	ORPHA:101085
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Micrognathia, Conjugated hyperbilirubinemia, High palate, At...	OMIM:614866
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Microcephaly, Splen...	ORPHA:290
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ventriculomegaly, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Spa...	OMIM:617710
Pseudohypoaldosteronism Type 2	Abnormality of the dentition, Hyperkalemia, Abnormal dental enamel morphology, Periodic paralysis	ORPHA:757
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Asparagine Synthetase Deficiency	Clonus, Micrognathia, Tremor, Hypertonia, Dilated third ventricle, Simple ear, EEG with burst sup...	OMIM:615574
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Tremor, Holoprosencephaly,...	ORPHA:96264
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodontia, High palate, Antegonial no...	OMIM:170390
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Vitamin K Antagonist Embryofetopathy	Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Optic atrophy, Ep...	ORPHA:1914
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Micrognathia, Hypertonia, Neutropenia, Joint contracture, Patent fora...	OMIM:618460
Familial Glucocorticoid Deficiency	Hyponatremia, Generalized hyperpigmentation, Anorexia, Precocious puberty, Cryptorchidism, Hyperk...	ORPHA:361
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Flexion contracture, Widely spaced teeth, Microdontia, Hepatomegaly, Ataxia, Micronodular cirrhos...	OMIM:301072
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ...	OMIM:618987
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Pediatric-Onset Graves Disease	Hepatomegaly, Hyperactivity, Craniosynostosis, Accelerated skeletal maturation, Tremor, Splenomeg...	ORPHA:525731
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Tremor, Oligodontia, High palate, Short philtrum, Compulsive behav...	OMIM:617061
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypogeusia, Emotional lability, Irritability, Decreas...	OMIM:201100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Macrocephaly/Autism Syndrome	Speech apraxia, Hepatomegaly, Joint laxity, Penile freckling, Large for gestational age, Splenome...	OMIM:605309
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Chronic he...	OMIM:618278
8Q22.1 Microdeletion Syndrome	Underfolded helix, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia of the maxil...	ORPHA:178303
Monosomy 9Q22.3	Large for gestational age, Short neck, Accelerated skeletal maturation, Cardiac fibroma, Orofacia...	ORPHA:77301
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Ventriculomegaly, Small for gestational age, Microcephaly, Tremor, Wide...	OMIM:312170
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Tremor, Abnormal dental en...	ORPHA:96263
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Wormian bones, Hypogonadotropic hypogonadism, Ventricular septal defect, Cr...	OMIM:617159
Proteus Syndrome	Neoplasm of the thymus, Abnormal form of the vertebral bodies, Abnormality of skin pigmentation, ...	ORPHA:744
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Hypospadias, Ataxia, Micrognathia, Hypoplasia of the maxilla, Co...	ORPHA:314679
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Delayed cranial suture closure, Craniosynostosis, Accelerated skeletal maturation, C...	OMIM:175700
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Microcephaly, Cryptorchidism, Sensorineural hearing impairment, ...	ORPHA:139471
Sézary Syndrome	Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Irregular hyperpigmentation, Abnormal lympho...	ORPHA:3162
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle...	OMIM:617435
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Increased CSF protein concentration, Ventriculomegaly, Microceph...	OMIM:251290
Mccune-Albright Syndrome	Accelerated skeletal maturation, Bone pain, Aneurysmal bone cyst, Osteomalacia, Precocious pubert...	ORPHA:562
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al...	OMIM:619824
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Hypoplasia of the maxilla, Delayed skeletal maturation, Se...	OMIM:608154
Trichothiodystrophy	Osteopenia, Joint dislocation, Multiple joint contractures, High, narrow palate, Abnormal pyramid...	ORPHA:33364
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Atrial septal defect, Atrioventricular canal defect, Genu varum, Spina bifida, Leuk...	OMIM:274000
Shprintzen-Goldberg Syndrome	Osteopenia, Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow pa...	ORPHA:2462
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Thin upper lip vermilion, Aggressive behavior, Microcephaly, Hydroce...	OMIM:300558
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, H...	ORPHA:83617
Chudley-Mccullough Syndrome	Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly	OMIM:604213
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Lethargy, Failure to thriv...	ORPHA:97362
Poems Syndrome	Sclerosis of hand bone, Papilledema, Hyperpigmentation of the skin, Sclerosis of foot bone, Peric...	ORPHA:2905
12Q14 Microdeletion Syndrome	Micrognathia, Tremor, Abnormality of the spleen, Osteopoikilosis, Microcephaly, Downturned corner...	ORPHA:94063
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Occipital encephalocele, Ataxia, Portal hypertension, Tremor, Splenomegaly, Congeni...	ORPHA:1454
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat...	ORPHA:48818
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Retrobulbar optic n...	OMIM:619737
Focal Dermal Hypoplasia	Linear hyperpigmentation, Anophthalmia, Congenital hip dislocation, Clitoral hypoplasia, Oligodon...	OMIM:305600
Desmosterolosis	Micrognathia, Generalized osteosclerosis, Ambiguous genitalia, female, Ambiguous genitalia, male,...	OMIM:602398
Multiple Sulfatase Deficiency	Hepatomegaly, Ventriculomegaly, Ataxia, Splenomegaly, Hydrocephalus, Hypoplastic vertebral bodies...	OMIM:272200
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Hemiv...	ORPHA:85284
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
20P12.3 Microdeletion Syndrome	Thickened helices, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Microtia, Long phi...	ORPHA:261295
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Tremor, Gait ataxia, Eruption failure, High palate, Compulsive beh...	ORPHA:476126
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit...	OMIM:618886
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Senso...	ORPHA:87
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Aicardi-Goutières Syndrome	Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Chronic CSF lymphocyt...	ORPHA:51
Developmental And Epileptic Encephalopathy 95	Multiple joint contractures, Cardiomegaly, Long nose, Deep philtrum, Widely spaced teeth, Thicken...	OMIM:618143
Kbg Syndrome	Vertebral fusion, Tented upper lip vermilion, Posteriorly rotated ears, Macrodontia, Short neck, ...	OMIM:148050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sc...	OMIM:615157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydroce...	OMIM:613153
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, ...	ORPHA:95409
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo...	OMIM:616007
Cowden Syndrome 5	Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Angioid streaks of the fun...	OMIM:615108
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh...	ORPHA:545
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Lateral ventricle dilatati...	ORPHA:306669
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Posteriorly rotated ears, Cryptorchidism, Trismus, Deep philtrum, Dental malocc...	OMIM:227330
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicul...	ORPHA:275761
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Bifid uvula, Syno...	OMIM:101200
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, T lymphocytopenia, ...	OMIM:300755
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Tremor, Flexion contracture, Dysmetria, Hypoalbuminemia, Hepatic fibrosis, Hypocholes...	OMIM:212065
Cowden Syndrome 6	Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Angioid streaks of the fun...	OMIM:615109
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Lymphopenia, Sinusitis, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Flexi...	OMIM:617591
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Micrognathia, Asplenia, Short neck, Ambiguo...	OMIM:249000
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Spa...	OMIM:614702
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed...	OMIM:277440
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa...	ORPHA:14
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Movement abnormality of the tongue, Dysmetria, Gait ataxia, Depression, Pr...	ORPHA:254881
Infantile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve ...	ORPHA:206436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Neonatal Lupus Erythematosus	Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di...	ORPHA:398124
Mucopolysaccharidosis, Type Vi	Flexion contracture, Anterior wedging of L1, Avascular necrosis, Hepatomegaly, Lumbar hyperlordos...	OMIM:253200
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Clonus, Microcephal...	OMIM:617301
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma...	ORPHA:100924
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Wide nasal bri...	ORPHA:2412
Pelvis-Shoulder Dysplasia	Waddling gait, Lumbar hyperlordosis, Hydranencephaly, Camptodactyly of finger, Spina bifida, Micr...	ORPHA:2839
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Microcephaly, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short phi...	OMIM:617333
Gómez-López-Hernández Syndrome	Hydrocephalus, Thin vermilion border, Ataxia, Low-set ears	ORPHA:1532
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Wad...	OMIM:253000
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Bone pain, Gingival overgrowth, Weight lo...	ORPHA:520
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	ORPHA:540
Branchiooculofacial Syndrome	Anophthalmia, Micrognathia, Short neck, Conductive hearing impairment, Ectopic thymus tissue, Hyp...	OMIM:113620
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Microc...	ORPHA:442835
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Hepatomegaly, Cerebral palsy, Abnormal heart valve morphology, Ataxia, Pericar...	ORPHA:36412
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au...	ORPHA:293978
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short neck, High, narrow palate, Hydrocephalus, Obesity, Mitral v...	ORPHA:2183
3Mc Syndrome 2	Prominence of the premaxilla, Torticollis, Hypospadias, Craniosynostosis, Limited elbow movement,...	OMIM:265050
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Accelerated skeletal maturation, Pituitary m...	ORPHA:649929
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Thoracic scoliosis, Dental crowding, Micrognathia, Spinal rigidit...	OMIM:620351
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing imp...	OMIM:102500
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Micrognathia, Microcephaly, Hydrocephalus, Hip disloca...	OMIM:241800
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Microcephaly, Cleft upper li...	OMIM:147250
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Cardiomegaly,...	ORPHA:42
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Anophthalmia, Dental crowding, Orofacial cleft, Vertebral seg...	ORPHA:2052
Congenital Disorder Of Glycosylation, Type Iie	Smooth philtrum, Hepatomegaly, Failure to thrive, Elevated circulating creatine kinase concentrat...	OMIM:608779
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Elbow dislocation, Abnormality of the spleen, Perineal fistula, Recto...	ORPHA:2538
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Cardiomegaly, Hepato...	OMIM:268800
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Recurrent sinusitis	OMIM:240500
Distal Triplication 15Q	Abnormal external genitalia, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis,...	ORPHA:314588
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Chorioretinal atrophy, Wide nasal bri...	OMIM:220220
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Intellectual Developmental Disorder, Autosomal Dominant 65	Prominent metopic ridge, Tented upper lip vermilion, Ataxia, Posteriorly rotated ears, Micrognath...	OMIM:619320
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Chorioretinal coloboma, ...	ORPHA:163961
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,...	OMIM:612714
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Congenital hip dislocation, Micrognathia, Microcephaly, Spl...	OMIM:617913
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodies with decreased ante...	OMIM:606842
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, Macular ...	ORPHA:3132
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ...	OMIM:239300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens...	OMIM:609136
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Gingival o...	OMIM:614753
Familial Congenital Mirror Movements	Cerebral palsy, Hypogonadotropic hypogonadism, Clumsiness, Poor fine motor coordination, Fused ce...	ORPHA:238722
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Hepatosplenomegaly, Lympha...	OMIM:615122
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Muscular ventricular septal defect, Submucous cleft hard palate, Spina bifida occul...	OMIM:619227
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, C...	OMIM:300842
Congenital Myopathy 8	High palate, Scoliosis, Cardiomegaly	OMIM:618654
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Flexion contractur...	ORPHA:272
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abnormality of the lymphatic sys...	ORPHA:1414
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Smooth philtrum, Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Microcephaly, Leuk...	OMIM:619321
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Caudal Regression Syndrome	Impulsivity, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, ...	ORPHA:3027
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Failure...	ORPHA:79301
Tick-Borne Encephalitis	Back pain, Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia, Tremor, L...	ORPHA:297
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Neutrophilia, Eosinophilia, Pulmonary embolism, Dyspnea, Asthma, Leukocytos...	ORPHA:3260
Rabin-Pappas Syndrome	Mandibular prognathia, Retinal detachment, Hyponatremia, Failure to thrive in infancy, Optic nerv...	OMIM:620155
Acute Lung Injury	Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Tach...	ORPHA:178320
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Hyperpigmentation of the skin, Anemia	ORPHA:75563
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Kyphosis, Dilated third ventricle, ...	ORPHA:500055
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis, Abnormal auditory evoked potentials, Decreased nerve conduct...	OMIM:601455
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Ataxia, Microcephaly, Splenomegaly, Irritability, Cirrhosis, Failure to thrive, Lim...	OMIM:613489
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Alpha-Mannosidosis, Infantile Form	Osteopenia, Mandibular prognathia, Communicating hydrocephalus, Short neck, Cortical thickening o...	ORPHA:309282
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Micrognathia, Tremor, Trismus, Microcephaly, Flexion contracture, Neutropenia, Opisthoton...	OMIM:616271
Stiff-Person Syndrome	Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Depression, Opisthotonus, Myoclonic...	OMIM:184850
Multiple Sulfatase Deficiency	Smooth philtrum, Hepatomegaly, Abnormality of retinal pigmentation, Joint stiffness, Microcephaly...	ORPHA:585
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, High palate, M...	ORPHA:536467
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Chorea, Oral ulcer, Leukopenia, Optic neuritis, Lymphopenia, Thrombo...	OMIM:301080
Sialuria	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Wide nasal bridge, Poor fine motor coordina...	OMIM:269921
Diencephalic Syndrome	Cachexia, Hydrocephalus, Long penis, Optic atrophy, Everted lower lip vermilion, Decreased body w...	ORPHA:1672
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Optic disc hypoplasi...	OMIM:300514
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Hig...	OMIM:224690
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Delayed ske...	OMIM:613320
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Congenital Hydrocephalus	Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Abnorma...	ORPHA:2185
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint stiffness, ...	ORPHA:583
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Abnormality of the male genitalia, Abnormali...	ORPHA:228123
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Albinism, ...	OMIM:600501
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Tremor, Cryptorchidism, Jaundice, Aggressive behavior, Flexion contracture, Microce...	OMIM:608093
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Broad-based gait, Ataxia, Ventriculomegaly, Microcephal...	OMIM:616541
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Albinism, Microcephaly, Splenomegaly, Macrotia, Ocular albinism, Neutropenia, EEG a...	OMIM:617050
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Hydrocepha...	ORPHA:244
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Microcephaly, Abnormal cardiac ventricle morphology, Hydroce...	ORPHA:2306
Fibrous Dysplasia Of Bone	Bone pain, Patchy reduction of bone mineral density, Abnormality of the cervical spine, Cortical ...	ORPHA:249
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation...	ORPHA:309854
Van Maldergem Syndrome 2	Osteopenia, Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypopla...	OMIM:615546
Angelman Syndrome	Mandibular prognathia, Tremor, Widely spaced teeth, Hypopigmentation of the skin, Hyperactivity, ...	ORPHA:72
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Lethargy, Retinal dege...	ORPHA:79282
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Micrognathia, Short neck, Cryptorchidism, Hydrocephalus,...	ORPHA:1865
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal hip joint morphology, Abnormality of the temporomandibular joint, Ankle swelling, Joint ...	ORPHA:85408
Cardiofaciocutaneous Syndrome	Short neck, High palate, Thickened helices, Atrial septal defect, Low-set, posteriorly rotated ea...	ORPHA:1340
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, ...	ORPHA:363958
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hypoplastic...	OMIM:619512
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he...	OMIM:212140
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Megaloblastic anemia, Tremor, Microce...	OMIM:277400
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Posteriorly rota...	ORPHA:264200
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Cardiomegaly, Congenital contracture, Prominent palatine ridges,...	ORPHA:97297
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Thin upper lip vermilion, Hyperactivity, EEG with focal spike ...	ORPHA:1942
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, ...	OMIM:614034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Abnormally large globe, Microcephaly, Hydroce...	OMIM:615249
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu...	OMIM:612541
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, Tremor, High, narrow palate, Pineal cyst, Short philtrum, Widely s...	OMIM:300967
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hea...	OMIM:182212
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Par...	ORPHA:2072
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Short neck, Hydrocephalus, Wide nasal bridge, Cleft palate, Ano...	OMIM:614083
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly	ORPHA:88643
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Increased circu...	ORPHA:556030
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Abnormal central motor function...	ORPHA:760
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hearing impairment, Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic ...	OMIM:619658
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Beck-Fahrner Syndrome	Ventricular septal defect, Joint hypermobility, Cardiomegaly, Accelerated skeletal maturation, Mi...	OMIM:618798
Sea-Blue Histiocytosis	Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin, Splenomegaly, Mediasti...	ORPHA:158029
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Weigh...	ORPHA:514
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Tremor, Overweight, Self-mut...	ORPHA:457240
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Increased circu...	ORPHA:556037
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Microcephaly, Overweight, Moderate hearing impairment, Difficulty walki...	ORPHA:370010
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymme...	OMIM:252900
Coenzyme Q10 Deficiency, Primary, 1	Right hemiplegia, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatine kin...	OMIM:607426
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Slender build	OMIM:300676
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Micrognathia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Dysphagia, Knee flexio...	OMIM:619708
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Oligodontia, Conductive hearing impairment, Spina bifida oc...	ORPHA:1826
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Deep philtrum, Atrial septal defect, Patent foramen ovale, Joi...	ORPHA:438213
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Increased bone mineral density, M...	ORPHA:1237
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Hypoxemia, Abnormal circul...	ORPHA:70578
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Joint laxity, Cerebral palsy, Delayed cranial suture closure, ...	OMIM:616260
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevate...	OMIM:619991
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio...	ORPHA:85451
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Thoracic scoliosis, Micrognathia, High palate, Abnormal repetitive mannerisms, Joint laxity, Norm...	ORPHA:300570
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Abnormality of the wrist, Hypoplasia of th...	ORPHA:1529
Cockayne Syndrome	Progressive gait ataxia, Retinal arteriolar constriction, Hypertonia, Congenital contracture, Ret...	ORPHA:191
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ...	ORPHA:794
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum...	OMIM:277900
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi...	OMIM:209900
Reni Syndrome	Hypertriglyceridemia, Ataxia, Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Hyp...	OMIM:617575
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Cleft palate, Scoliosis, ...	OMIM:118100
Adams-Oliver Syndrome	Encephalocele, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibro...	ORPHA:974
Dysostosis, Stanescu Type	Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Abnormal dent...	ORPHA:1798
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral bodies, Oppo...	OMIM:252940
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Genital ulcers, Chorea, Oral ulcer, Polyarticular arthritis, Lymphopenia, Throm...	OMIM:616744
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Microcephaly,...	OMIM:312080
Fanconi Anemia, Complementation Group D2	Reticulocytopenia, Abnormality of skin pigmentation, Neutropenia, Micropenis, Cryptorchidism, Low...	OMIM:227646
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd...	OMIM:123500
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasi...	OMIM:610125
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Chronic noninfectious lymphadenopathy, Bone pain, Abnormal lymph node morpho...	ORPHA:319487
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Supernumerary nipple, Selective tooth agenesis, Hypoplasi...	OMIM:106260
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Conductive hearing impairment, M...	OMIM:201750
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Malar prominence, Abnormal retinal va...	ORPHA:2715
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Microcephaly, Hyperprolinemia, Perimembranous ventricular septal...	OMIM:619170
Proximal 16P11.2 Microduplication Syndrome	Thin upper lip vermilion, Microcephaly, Tremor, Hemivertebrae, Microtia, Scoliosis, Compulsive be...	ORPHA:370079
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorineural hearing impairme...	OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Elevated circulating creatine kinase concentration, Micrognathia, Congen...	OMIM:236670
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Hyperpigmentation of the skin, Male pse...	ORPHA:90790
Prolidase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Micrognathia, Carious teeth, Splenomegaly, Red...	ORPHA:742
Farber Disease	Abnormality of the knee, Intrahepatic cholestasis with episodic jaundice, Abnormality of the wris...	ORPHA:333
Fanconi Anemia, Complementation Group R	Radial dysplasia, Microcephaly, Hydrocephalus, Agenesis of permanent teeth, Bone marrow hypocellu...	OMIM:617244
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Retinal dystrophy, Dextrocardia, Ataxia, Agangl...	ORPHA:220493
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Ataxia, Tremor, Optic atro...	OMIM:614381
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Recurrent pneumonia, Pneumonia, Rhinorrhea	OMIM:158310
Atelosteogenesis, Type Iii	Cervical segmentation defect, Cervical kyphosis, Short neck, Hypoplasia of the maxilla, Micrognat...	OMIM:108721
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnormality of the spleen, Lymphaden...	ORPHA:79456
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Hypersplenism, Spleno...	OMIM:230800
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi...	OMIM:215140
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration...	OMIM:617099
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Limited elbow movement, Hyperlordosis, Spinal...	ORPHA:268
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Japanese Encephalitis	Decreased motor nerve conduction velocity, Stiff neck, Genu recurvatum, Anorexia, Tremor, Opistho...	ORPHA:79139
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver...	OMIM:309620
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short neck, Tremor, High palate, Short philtrum, Hyperactivity, Open bite, O...	ORPHA:85293
Alpha-N-Acetylgalactosaminidase Deficiency	Clonus, Cardiomegaly, Tetraplegia, Thick vermilion border, Scoliosis, Spasticity, Hearing impairment	ORPHA:3137
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Addictive alcohol use, Le...	ORPHA:90065
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Ataxia, Morning glory anoma...	OMIM:614424
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Wid...	OMIM:601499
Kabuki Syndrome	Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Orofac...	ORPHA:2322
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:601390
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Weight loss, Abnormal lymphatic vesse...	ORPHA:90362
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Hearing impairment	OMIM:314600
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Gingivitis, Pre...	OMIM:618107
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydroce...	ORPHA:1528
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Retinal dyst...	ORPHA:251066
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Hypermelanotic macule, Elevated circulating C-reactive protein concentration, Orchi...	ORPHA:32960
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Hydrocephalus, Joint laxity, Kyphoscoliosis	OMIM:236660
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Parkinsonism, Tremor, Decreased nerve conduction velocity, Depression, Cardiomyopathy,...	ORPHA:329478
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Accessory ...	ORPHA:79113
7Q31 Microdeletion Syndrome	Speech apraxia, Torticollis, Hyperactivity, Hypoplasia of the maxilla, Delayed skeletal maturatio...	ORPHA:251061
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Short neck, Deep philtrum, Finger joint hypermobility, Joint laxity, Juven...	OMIM:613563
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut...	ORPHA:221016
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Microt...	OMIM:171480
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Microcephaly, Splenomegaly, Inability to walk, Chronic CSF lymphocytosis, Increased...	OMIM:225750
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Thrombocytopenia, Increas...	ORPHA:158048
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodul...	ORPHA:97290
Geroderma Osteodysplasticum	Osteopenia, Mandibular prognathia, Beaking of vertebral bodies, Hyperextensibility of the finger ...	OMIM:231070
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Craniosynostosis, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Opti...	ORPHA:1555
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:529799
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Smooth philtrum, Hypoplasia of the maxilla, Carious teeth, Posterior w...	ORPHA:50814
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f...	ORPHA:828
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Microcephaly, Periodontitis, Compulsive behaviors, Reduction of neutrophil motility	OMIM:266265
1Q44 Microdeletion Syndrome	Smooth philtrum, Prominent metopic ridge, Optic disc hypoplasia, Exaggerated cupid's bow, Microgn...	ORPHA:238769
Recon Progeroid Syndrome	Joint laxity, Attached earlobe, Prominence of the premaxilla, Smooth philtrum, Dental crowding, M...	OMIM:620370
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane...	ORPHA:77297
Malignant Hyperthermia, Susceptibility To, 3	Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept...	ORPHA:1335
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, Reduced bone mineral density,...	ORPHA:2720
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the s...	ORPHA:85212
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the...	OMIM:257850
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hyperactivity, Hypoplasia of the maxilla, Crowded maxillary incisors, Obesity	ORPHA:397973
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Natal tooth, Median cleft lip, Ventricular septal defect, Posteriorly rotated ears,...	OMIM:269860
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, T...	OMIM:208920
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, High palate, Atrial septal defect, Advanced eruption of t...	ORPHA:769
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, High ...	OMIM:608836
Alexander Disease	Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei...	OMIM:203450
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor co...	OMIM:613280
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, De...	OMIM:612582
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Sagittal craniosynostosis, Micrognathia, Asplenia, Cryptorchid...	ORPHA:221120
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas...	OMIM:616367
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab...	ORPHA:101096
Combined Oxidative Phosphorylation Deficiency 8	EEG abnormality, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop...	ORPHA:83469
Wildervanck Syndrome	Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica...	ORPHA:3456
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Cardiomegaly, Narrow mouth, Delayed skeletal maturation, Broad phi...	ORPHA:2463
Cholesteryl Ester Storage Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Joint contracture, Delay...	OMIM:601812
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Limb ataxia, Increased CSF lactate, Trunca...	OMIM:619051
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Amelogene...	OMIM:612783
Raine Syndrome	Mandibular prognathia, Micrognathia, Short neck, Protruding ear, High palate, Microdontia, Increa...	OMIM:259775
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morp...	ORPHA:2461
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Thro...	ORPHA:64743
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Hearing impairment, Cardiomegaly, Tremor, Sensorineural hearing impairment, Amyloid depos...	OMIM:105210
Igg4-Related Pachymeningitis	Dyspnea, Sinusitis, Eosinophilia, Increased circulating IgG4 level	ORPHA:449427
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Joint hypermobility, Joint stiffness, Tremor, Kyphosis...	OMIM:617988
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Ataxia, Abnormality of neutrophils, Anorexia, Abnormal retinal v...	ORPHA:33226
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Joint hyperflexib...	ORPHA:2655
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Deep philtrum, Orofacial ...	OMIM:609637
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm...	ORPHA:320401
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Hypopigmentation of t...	ORPHA:221008
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Cleft pala...	OMIM:246560
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
Acrofacial Dysostosis, Catania Type	Microretrognathia, Low-set, posteriorly rotated ears, Hypospadias, Microcephaly, Carious teeth, C...	ORPHA:1786
Nablus Mask-Like Facial Syndrome	Short neck, Hypoplasia of the maxilla, High palate, Small earlobe, Micropenis, Cryptorchidism, Wi...	OMIM:608156
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Failure t...	OMIM:610600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Lethargy	OMIM:619064
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Fractures of the long bones, Pancreatic cysts, Splenomegaly, ...	ORPHA:464329
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Hydrocephalus, Limitation of joint mobility, Joint hyperflexibility, Pla...	ORPHA:93274
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, High, narrow palate, Flexion contracture, Abnormal ovari...	ORPHA:95699
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Thin upper lip vermilion, Ventriculomegaly, Ataxia, Aggressive behavior...	ORPHA:572798
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Tented upper lip verm...	OMIM:617281
Kleeblattschaedel	Hydrocephalus, Elbow ankylosis, Craniosynostosis	OMIM:148800
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irritability, Increased CSF phenylalanine...	OMIM:233910
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th...	ORPHA:37042
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth,...	ORPHA:2348
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
1Q21.1 Microdeletion Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Wide nasal bridge,...	ORPHA:250989
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbumine...	ORPHA:99826
Arnold-Chiari Malformation Type I	Stiff neck, Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormali...	ORPHA:268882
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Hypocalcif...	ORPHA:169090
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Thoracic kyphosco...	OMIM:613385
Muscle-Eye-Brain Disease	Elevated circulating creatine kinase concentration, Hemiplegia/hemiparesis, Hydrocephalus, Mening...	ORPHA:588
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni...	OMIM:614172
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Tremor, Hemiplegia, Lymphopenia	OMIM:182410
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Micrognathia, EEG with burst suppression, Hypsarrhythmia, Congenital contracture	OMIM:619036
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Long philtrum, Hepatomegaly, Hypospadias, Increas...	OMIM:222470
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Small scrotum, Camptodactyly of finger, Abnormal oral mucosa m...	ORPHA:1968
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Marshall Syndrome	Retinal detachment, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoa...	ORPHA:560
Porphyria, Congenital Erythropoietic	Osteopenia, Hepatomegaly, Hemolytic anemia, Erythrodontia, Hyperpigmentation of the skin, Splenom...	OMIM:263700
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Macrotia, Cardiomegaly	OMIM:613576
Mixed Connective Tissue Disease	Hepatomegaly, Pericarditis, Hemolytic anemia, Joint stiffness, Splenomegaly, Myocarditis, Mediast...	ORPHA:809
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Adams-Oliver Syndrome 2	Micrognathia, Microcephaly, Hydrocephalus, Optic atrophy, Protruding ear, Lateral ventricle dilat...	OMIM:614219
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Aplasia of the thymus, Atypical or prolonged he...	ORPHA:83471
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Failure to thrive, Delayed cranial suture closure, Fetal ascites, Micro...	OMIM:261515
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Opti...	OMIM:609541
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Atelosteogenesis, Type I	Encephalocele, Short neck, Micrognathia, Cryptorchidism, Thoracic platyspondyly, Elbow dislocatio...	OMIM:108720
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Protruding ear, Atrial septal defect, Micro...	OMIM:613458
Cernunnos-Xlf Deficiency	Microcephaly, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, ...	OMIM:615512
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Joint...	OMIM:615934
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Simple ear, Lumbar hyperl...	OMIM:305450
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Hypoplasia of the maxill...	ORPHA:1307
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly, Myoclonus, Cherry red sp...	ORPHA:309155
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Peripheral retinal avascularization, Tented upper lip vermilion, External ...	ORPHA:96334
Cold Agglutinin Disease	Back pain, Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Noonan Syndrome 14	Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, High, narrow palate, Mitral valve...	OMIM:619745
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Micrognathia, Cryptorchidism, Hydrocephalus...	ORPHA:3301
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia...	ORPHA:1215
Andersen-Tawil Syndrome	Joint laxity, Periodic hyperkalemic paralysis, Abnormality of dental color, Thin upper lip vermil...	ORPHA:37553
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, External genital hypo...	ORPHA:141099
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Lower limb dysmetria, Micrognathia, Protruding ear, High palate, Atrial septal defect,...	ORPHA:363700
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Recurrent si...	OMIM:619281
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Short neck, Flexion contracture, Downturned corners ...	OMIM:264090
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	OMIM:613327
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Wide nasal bridge, Obesity, Wide mouth, Polyphagia, Self-muti...	OMIM:616521
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain...	ORPHA:29073
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearing impai...	OMIM:300373
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Compulsive be...	ORPHA:353281
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Joint hypermobility, Microcephaly, Inability...	OMIM:616362
Hemorrhagic Fever-Renal Syndrome	Back pain, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyp...	ORPHA:340
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Microcephaly, C...	OMIM:264480
Cousin Syndrome	Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen...	OMIM:260660
Scrub Typhus	Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Lethargy	ORPHA:83317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, H...	OMIM:615181
Microphthalmia, Syndromic 6	Small scrotum, Anophthalmia, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Bifid u...	OMIM:607932
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Hydrocephalus, Wide mouth, Platyspondyly, Short philtrum, Low-set ears, Microphthal...	ORPHA:163966
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Posteriorly rotated ears, Micrognathia, Pericardial effusion, Hy...	OMIM:617822
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:203400
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition	ORPHA:2776
Kaposi Sarcoma	Generalized lymphadenopathy, Abnormal retinal morphology, Hypermelanotic macule, Abnormality of t...	ORPHA:33276
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Orofacial cleft, Retinal dysplasia, Microphthalmia, Ventr...	ORPHA:324416
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, High, narrow palate, Cl...	ORPHA:2554
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Congenital giant melanocytic nevus, Deep philtrum, Everted lower li...	OMIM:137550
Refsum Disease, Classic	Ataxia, Cardiomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concen...	OMIM:266500
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Bifid ...	ORPHA:2588
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Obesity, Hypogonadism, Microphthalmia	ORPHA:141333
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Spina bifida o...	ORPHA:1452
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Long nose, Hydro...	OMIM:618590
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, High palate, Pr...	OMIM:617523
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal os...	OMIM:602557
Mend Syndrome	Microretrognathia, Smooth philtrum, Sacral dimple, Hyperactivity, Posteriorly rotated ears, Micro...	OMIM:300960
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Hydrocephalus, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Gait ...	ORPHA:2181
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cario...	ORPHA:3253
Primrose Syndrome	Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Reduced bone mineral de...	OMIM:259050
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners...	OMIM:617140
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ...	OMIM:619377
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Precocious puberty, Cryptorchidism, Hyperkalemia, Failure to thrive	OMIM:614736
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy	OMIM:617772
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia, Weight loss	ORPHA:50251
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Oral ulcer, Lymphadenopathy, Leukopenia, Ascites, Arthritis, Microangiopath...	ORPHA:93552
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Low back pain, Splenomegaly, Acute myelomono...	ORPHA:86843
Camurati-Engelmann Disease	Mandibular prognathia, Waddling gait, Increased bone mineral density, Carious teeth, Lower limb p...	OMIM:131300
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defec...	ORPHA:1908
Peho Syndrome	Microcephaly, External ear malformation, Open mouth, Hydrocephalus, Flexion contracture, Optic at...	ORPHA:2836
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Cole-Carpenter Syndrome 1	Osteopenia, Communicating hydrocephalus, Recurrent fractures, Micrognathia, Hydrocephalus, Verteb...	OMIM:112240
Acro-Renal-Ocular Syndrome	Vertebral fusion, Optic disc hypoplasia, Aganglionic megacolon, Radial club hand, Sensorineural h...	ORPHA:959
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Aggressive behavior, Acceler...	ORPHA:293987
Cystinosis	Portal hypertension, Abnormal repetitive mannerisms, Rickets, Abnormal pyramidal sign, Hypokalemi...	ORPHA:213
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Familial Pancreatic Carcinoma	Back pain, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Weight loss, ...	ORPHA:1333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Peric...	OMIM:615846
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor,...	ORPHA:3455
Hypoadrenocorticism, Familial	Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia	OMIM:240200
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Small for gestationa...	ORPHA:84064
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Kyphosis, Hydrocephalus...	OMIM:616294
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, Dextrocardia, Micrognathia, Spina bif...	ORPHA:2437
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Microdontia, Atrial septal defect, Pate...	OMIM:620005
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra...	ORPHA:79102
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Micrognathia, Microcephaly, Hydrocephalus, Wide nasal b...	OMIM:243605
6P22 Microdeletion Syndrome	Short neck, Hydrocephalus, Low-set ears, Overfolded helix, Abnormal palate morphology, Hearing im...	ORPHA:251046
Joubert Syndrome	Encephalocele, Ataxia, Aganglionic megacolon, Tremor, Situs inversus totalis, Hydrocephalus, Abno...	ORPHA:475
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe...	OMIM:616860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Infantile Liver Failure Syndrome 3	Hepatomegaly, Abnormal acetabulum morphology, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia...	OMIM:618641
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Conductive hearing...	ORPHA:99843
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can...	OMIM:619573
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Short neck, Conjugated hyperbi...	ORPHA:168577
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Oral ulcer, Hepatospl...	OMIM:260920
Dubowitz Syndrome	Aplastic anemia, Micrognathia, Protruding ear, Hypoplasia of the iris, High palate, Hypocholester...	OMIM:223370
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Oligodontia, Short philtrum, C...	ORPHA:2044
Crimean-Congo Hemorrhagic Fever	Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Cholecystit...	ORPHA:99827
Frontorhiny	Encephalocele, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, ...	ORPHA:391474
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Cleft palate, Mild hearing impairment, Wi...	ORPHA:459061
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Hyd...	ORPHA:1812
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Splenomegaly, Abnormally ossified vertebrae, Micrognathia	ORPHA:3035
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Elbow ankylo...	ORPHA:2658
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Reticul...	OMIM:127550
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submucous cleft h...	ORPHA:2250
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Elsahy-Waters Syndrome	Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, High p...	OMIM:211380
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hearing impairment, Opt...	OMIM:222300
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Bicuspid aortic valve, Hydrocephalus, Babinski sign, Abnorma...	ORPHA:397951
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217085
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:177735
Nephronophthisis 2	Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney	OMIM:602088
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive prote...	ORPHA:160
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ...	ORPHA:363705
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Brain abscess, Hemolytic anemia, Myocarditis, Leukocytosis, Hyperkalemia, Hemipares...	ORPHA:544482
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Sensorineural hearing im...	OMIM:616084
Hurler-Scheie Syndrome	Hepatomegaly, Camptodactyly of finger, Micrognathia, Joint stiffness, Splenomegaly, Kyphosis, Con...	OMIM:607015
Malignant Hyperthermia, Susceptibility To, 1	Rigidity, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Spastic...	OMIM:606159
Myopathy, Centronuclear, X-Linked	Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, Dental malocclusion, High palat...	OMIM:310400
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Hyp...	OMIM:128100
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, O...	OMIM:612289
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the dentition, Kyphosis, Abnormality of the gallbladde...	ORPHA:349
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f...	ORPHA:247585
Listeriosis	Back pain, Liver abscess, Stiff neck, Tremor, Abnormal cellular immune system morphology, Granulo...	ORPHA:533
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Behçet Disease	Anorexia, Abnormal pyramidal sign, Oral ulcer, Avascular necrosis, Ataxia, Retrobulbar optic neur...	ORPHA:117
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li...	OMIM:608643
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia...	ORPHA:822
47,Xyy Syndrome	Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level...	ORPHA:8
Meier-Gorlin Syndrome 3	Small scrotum, Micrognathia, Hypoplasia of the maxilla, Patellar hypoplasia, Micropenis, Genu var...	OMIM:613803
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Prolidase Deficiency	Hepatomegaly, Micrognathia, Splenomegaly, Thrombocytopenia, High palate, Prolonged neonatal jaund...	OMIM:170100
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Osteoporosis, Optic atrophy...	OMIM:612199
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Tetanus	Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Trismus, Rigidity, Opisth...	ORPHA:3299
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, High palate,...	OMIM:617137
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217093
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Congenital hip dislocation, Microcephaly, Hydrocephalus, Protruding ear, High palate,...	OMIM:612940
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Cardiomegaly, Large for gestational age, Accelerated skeletal maturation, ...	ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Short neck, Tremor, Oral-pharyngeal dysphagia, High, narrow palate, Prominent protrud...	OMIM:300966
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Hydrocephalus, Optic atrophy, La...	OMIM:612301
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Thin upper lip vermilion, Increased circulating thyroglobulin level, Th...	OMIM:610199
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:264350
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Carious teeth, Narrow mouth, D...	ORPHA:89842
Typhoid	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy	ORPHA:99745
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Dental crowding, High, narrow palate, Orofacial cleft, High ...	OMIM:309800
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Abnormality of the liver...	ORPHA:254892
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Microdontia, Simp...	OMIM:618268
Sarcoidosis	Abnormal cerebrospinal fluid morphology, Increased T cell count, Leukopenia, Hypopigmentation of ...	ORPHA:797
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Smooth philtrum, Short neck, Micrognathia, High, narrow palate, Hydrocephalus, Colpocephaly, Cong...	OMIM:620156
Cockayne Syndrome Type 3	Flexion contracture, Adult onset sensorineural hearing impairment, Conductive hearing impairment,...	ORPHA:90324
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive spastic par...	ORPHA:206448
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Inability to walk, Depression, Thick vermilion border, Macrodontia ...	OMIM:620114
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj...	ORPHA:53035
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short neck, Delayed skeletal maturation, Hyposegmentation of neutrophil nuclei, Optic atrophy, Th...	OMIM:614800
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Sacral dimple, Aganglionic megacolon, Microcephaly, Hyd...	OMIM:613603
Cryptogenic Organizing Pneumonia	Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig...	ORPHA:1302
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Tremor, Large fleshy ears, High palate, Atrial septal def...	ORPHA:280633
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s...	ORPHA:96
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder	ORPHA:261102
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hyperpigmentation of the skin, Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Glo...	OMIM:175500
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Orofaciodigital Syndrome I	Lobulated tongue, Hepatic fibrosis, High palate, Microretrognathia, Hamartoma of tongue, Cleft up...	OMIM:311200
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Neurofibromatosis Type 1	Pheochromocytoma, Chorioretinal coloboma, Genu varum, Ataxia, Precocious puberty, Cryptorchidism,...	ORPHA:636
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Accelerated sk...	ORPHA:1517
Q Fever	Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Anorexia, Pericardial...	ORPHA:781
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Limb dys...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Limb dys...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Limb dys...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Limb dys...	ORPHA:93924
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Coach Syndrome 2	Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating creatinine concentration, Portal...	OMIM:619111
Satoyoshi Syndrome	Abnormality of the knee, Hyperlordosis, Microcephaly, Abnormal joint morphology, Hypoplasia of th...	ORPHA:3130
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Dextrocardia	Congenital hip dislocation, Dextrocardia, Abnormal reproductive system morphology, Situs inversus...	ORPHA:1666
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Delayed skeletal matura...	OMIM:613804
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Bicuspid aortic valve, Microcephaly, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spast...	OMIM:615599
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Exaggerated startle response, Broad-based gait, Ataxia, Tented upper li...	ORPHA:438216
Functioning Gonadotropic Adenoma	Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ...	ORPHA:91348
Peters-Plus Syndrome	Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, M...	OMIM:261540
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Hyperlysinemia	Abnormal CSF ornithine concentration, Tremor, Dysmetria, Opisthotonus, High palate, Hyperactivity...	ORPHA:2203
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Short neck, Mac...	ORPHA:1780
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,...	OMIM:147920
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking	ORPHA:99845
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Wide cranial sutu...	OMIM:618188
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Micrognathia, Protruding tongue, Macrogl...	ORPHA:2268
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Abnormal pyramidal sign, Subependymal cysts, Increased CSF glutamate concentrat...	ORPHA:3008
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat...	OMIM:203500
Gabriele-De Vries Syndrome	Waddling gait, Posteriorly rotated ears, Micrognathia, Tremor, Cryptorchidism, Abnormality of the...	OMIM:617557
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Conductive hearing impairment, Sev...	OMIM:620186
Whim Syndrome	Lymphopenia, Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neutrophil morphology, Limb...	ORPHA:51636
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Attrv30M Amyloidosis	Vitreous floaters, Cardiomegaly, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system p...	ORPHA:85447
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy, Macroglossia, Ovarian neoplasm, Glossitis	ORPHA:2221
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Downturned corner...	ORPHA:1299
Tetrasomy 5P	Posteriorly rotated ears, Short neck, Micrognathia, Hydrocephalus, Wide nasal bridge, Depigmentat...	ORPHA:3309
Coach Syndrome 1	Encephalocele, Hepatomegaly, Optic disc pallor, Occipital encephalocele, Ataxia, Portal hypertens...	OMIM:216360
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microcephaly, Hyp...	OMIM:201475
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Reduced bone mi...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Reduced bone mi...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Reduced bone mi...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Reduced bone mi...	ORPHA:881
Central Neurocytoma	Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, Depression, Lethargy...	ORPHA:73256
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Aplasia/Hypoplasia...	ORPHA:264450
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Ventricular septal defect, Facial palsy, Aganglionic megacolon, Sensorineu...	OMIM:607323
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone ...	OMIM:601794
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C...	OMIM:615518
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Camptodactyly of finge...	OMIM:166250
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive	ORPHA:99931
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly,...	ORPHA:77293
Niemann-Pick Disease Type C	Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of th...	ORPHA:646
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Hy...	ORPHA:3042
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ...	OMIM:271520
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, Hypopigmentation of the s...	OMIM:219800
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cryptorchidism, Wide nasal bridge, Genu valgum, Protruding ear, Joint hype...	ORPHA:1778
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:170500
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Niemann-Pick Disease, Type C1	Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Dysphagia, Gait ataxia...	OMIM:257220
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Abno...	ORPHA:320406
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Malar flattening, Abnormal...	OMIM:218350
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, EEG abnormality, Y...	ORPHA:1946
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:145260
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossi...	OMIM:114290
Muenke Syndrome	Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Hydrocephalus, Sensorineural heari...	ORPHA:53271
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Small earlobe, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ...	OMIM:613805
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Atrial sept...	OMIM:613610
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Beaking of vertebral bodies, Joint stiffness, Carious teeth,...	ORPHA:93
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An...	OMIM:164210
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Long nose, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th fi...	OMIM:184460
Rapp-Hodgkin Syndrome	Hypospadias, Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft...	OMIM:129400
Rhombencephalosynapsis	Microretrognathia, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Ataxia, Aganglionic ...	ORPHA:59315
Orofaciodigital Syndrome Type 1	Micrognathia, Tremor, Reduced bone mineral density, Lobulated tongue, High palate, Dandy-Walker m...	ORPHA:2750
Müllerian Aplasia And Hyperandrogenism	Short neck, Obesity, Cleft palate, Protruding ear, Hypoplasia of the uterus, Short philtrum, Cubi...	ORPHA:247768
Scheie Syndrome	Hepatomegaly, Cerebral palsy, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, Li...	ORPHA:93474
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperextensibility of the finger joints, Thin upper lip vermilion, Hypospadia...	ORPHA:163979
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Accelerated skeletal maturation, Vertebral segmentation defect, Hepatoblas...	OMIM:312870
Lymphatic Filariasis	Restrictive ventilatory defect, Wheezing, Hypereosinophilia, Cough	ORPHA:2035
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Hearing impairment, Tremor, Cryptorchidism,...	OMIM:620327
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment, Atrial septal defect, Patent foramen ovale, Joint laxity, Delayed ...	OMIM:157800
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Microcephaly, Hydrocephalus, High palate, Spasticity, Ventriculomegaly, Di...	OMIM:304100
Aymé-Gripp Syndrome	Oligodontia, Prominent metopic ridge, Pericardial effusion, Cryptorchidism, EEG abnormality, Micr...	ORPHA:1272
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Delayed cranial suture closure, Persistence of primary teeth, Carious teeth, Delayed...	ORPHA:93325
Thymic Neuroendocrine Tumor	Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lym...	ORPHA:97289
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Hepatomegaly, Cystic angiomatosis of bone, Hypertriglyceridemia, Acute pan...	OMIM:269700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt...	OMIM:614643
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr...	OMIM:239200
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ambiguous genitalia, Clitoral hypertrophy, ...	OMIM:264270
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Abnormal retinal morphology, Mediastinal lymphadenopathy, Perit...	ORPHA:1546
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Arachnoid Cyst	Back pain, Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Inability to walk, Hydr...	ORPHA:2356
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Babinski sign, Limb ataxia, Gait ataxia, Depr...	OMIM:619259
Mucolipidosis Type Ii	Knee flexion contracture, Conductive hearing impairment, Patent foramen ovale, Prominent metopic ...	ORPHA:576
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Platyspondyly, Low-set ears, Microphthalmia, Short nose, Decreased skull ossification	OMIM:300863
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti...	OMIM:234200
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Lethargy,...	ORPHA:427
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Tented upper lip vermilion, Left ventricular noncompaction cardiomyopathy, Left atr...	OMIM:619424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Hepatomegaly, Speech apraxia, Ataxia, Elevated circulating creatine kinase concent...	OMIM:615356
Incontinentia Pigmenti	Pulmonary arterial hypertension, Eosinophilia	ORPHA:464
Pachydermoperiostosis	Hepatomegaly, Cerebral palsy, Osteomyelitis, Elevated circulating growth hormone concentration, S...	ORPHA:2796
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Joint stiffness, Splenomegaly, Delayed skeletal matu...	ORPHA:2746
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Conductive he...	OMIM:252100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depress...	ORPHA:79095
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Dysmetria, ...	OMIM:618056
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Ad...	ORPHA:36238
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Generalized Arterial Calcification Of Infancy	Choroidal neovascularization, Cardiomegaly, Abnormal retinal artery morphology, Abnormal calcific...	ORPHA:51608
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Decreased body weig...	ORPHA:93945
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Pfeiffer Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, Humeroradial sy...	OMIM:101600
Glutaric Acidemia I	Hepatomegaly, Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral v...	OMIM:231670
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Depression, Vitili...	ORPHA:2137
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Short neck, Micrognathia, Ky...	ORPHA:958
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, Short phil...	ORPHA:500150
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Knee flexion contracture, High palate, Atrial septal defect, Wrist flex...	OMIM:268300
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Natal tooth, Hypospadias, Posteriorly rotated ears, Craniosynostosis, Hydrocephalu...	OMIM:123790
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Wide nasal bridge, Craniosynostosis, Accelerated skeletal maturation	ORPHA:380
Acrofacial Dysostosis 1, Nager Type	Micrognathia, Aqueductal stenosis, Conductive hearing impairment, Abnormality of the cervical spi...	OMIM:154400
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, External ear malformation, Cryptorchidism, Hydrocephalus, Hemiplegia/...	ORPHA:1647
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Camptodactyly o...	ORPHA:261337
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Elev...	ORPHA:91547
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Optic disc pallor, Hypospadias, Ataxia, Optic neuropathy, Microcephaly, Splenomegal...	OMIM:252010
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Micrognathia, Spleno...	ORPHA:280365
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Atrial septa...	OMIM:241310
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Spastic paraplegia, Optic atrophy, Hearing impairment	OMIM:615191
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth	ORPHA:83473
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,...	ORPHA:99750
Neurodegeneration And Seizures Due To Copper Transport Defect	Decreased CSF copper concentration, Cardiomegaly, Glandular hypospadias, Abnormal circulating cer...	OMIM:620306
Dpagt1-Cdg	Tremor, Flexion contracture, Hypertonia, Diffuse optic disc pallor, Hepatomegaly, Ataxia, Osteopo...	ORPHA:86309
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Hypospadias, Small for gestational age, Ataxia, Tremor, Cryptorchidism, Wide n...	OMIM:614052
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Lumb...	OMIM:250250
Isolated Anencephaly	Cleft lip, Thymus hyperplasia	ORPHA:563609
Tetrasomy 15Q26	Microretrognathia, Kyphoscoliosis, Hydrocephalus, Cupped ear, High palate, Low-set ears, Camptoda...	OMIM:614846
Chromosome 17P13.1 Deletion Syndrome	Joint laxity, Sacral dimple, Posteriorly rotated ears, Spina bifida, Short neck, Microcephaly, Hi...	OMIM:613776
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Chronic active hepatitis, Abnormality of the peripheral nervous s...	ORPHA:289390
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi...	OMIM:619510
Ethylene Glycol Poisoning	Ataxia, Facial palsy, Hyperkalemia, Slurred speech, Euphoria, Addictive alcohol use, Hypocalcemia...	ORPHA:31826
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Microcep...	OMIM:251880
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Ataxia, Hydrocephalus, Optic ...	OMIM:608091
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, O...	OMIM:614204
Yunis-Varon Syndrome	Cardiomegaly, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh...	ORPHA:3472
Immunodeficiency 31C	Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune ...	OMIM:614162
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Hepatomegaly, Cystic angiomatosis of bone, Hypertriglyceridemia, Acute pan...	OMIM:608594
Niemann-Pick Disease, Type C2	Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Dysphagia, P...	OMIM:607625
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, ...	OMIM:611881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Elevated circulating creatine kinase concentration, Spinal rigidity, Microcephaly,...	OMIM:613150
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Cerebral palsy, Spastic ...	ORPHA:369929
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Short neck, Flexion contractur...	OMIM:263650
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Conductive hearing imp...	OMIM:607872
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Aganglionic megacolon, Tremor, Hydrocep...	ORPHA:220497
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent aphthous stomatitis, Recurr...	OMIM:614868
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Thin upper lip vermilion, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, M...	OMIM:620233
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Endocrine-Cerebroosteodysplasia	Natal tooth, Ventriculomegaly, Small scrotum, Hypospadias, Bilateral cleft lip, Median cleft lip,...	OMIM:612651
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Hypokalemia, Abdominal obesity, Biconcave ver...	OMIM:219090
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Osteop...	OMIM:232220
Tetrasomy 9P	Joint dislocation, Dental crowding, Micrognathia, Short neck, Biliary atresia, Downturned corners...	ORPHA:3310
Stiff Person Spectrum Disorder	Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Falls, Difficulty walking, Emotiona...	ORPHA:3198
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Impulsivity, Pa...	OMIM:614298
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Complete atrioventricular cana...	OMIM:619142
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Micr...	OMIM:614921
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Abnormal pinna morphology, Hydrocephalus, Flexion contracture, Humeroradial synostosis, Hypoplast...	OMIM:207410
Gaucher Disease, Type Ii	Hepatomegaly, Rigidity, Splenomegaly, Trismus, Thrombocytopenia, Hypertonia, Dysphagia, Oculomoto...	OMIM:230900
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Thin upper lip vermilion, Hypoplasia of penis, Hypogonadotropic hypogonadism, Join...	ORPHA:1295
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, In...	ORPHA:365
East Syndrome	Salt craving, Ataxia, Inability to walk, Sensorineural hearing impairment, Hypokalemia, Increased...	ORPHA:199343
Axenfeld-Rieger Syndrome	Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Everte...	ORPHA:782
Achondroplasia	Lumbar hyperlordosis, Hearing impairment, Hip joint hypermobility, Kyphosis, Hydrocephalus, Spina...	ORPHA:15
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Abnormally large globe, Kyphosis, Hydrocephalus, K...	OMIM:603387
Nager Syndrome	Low-set, posteriorly rotated ears, Joint stiffness, Hypoplasia of the maxilla, Micrognathia, Non-...	ORPHA:245
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Weight loss, Inc...	ORPHA:449395
Immunodeficiency 47	Normocytic anemia, Hepatomegaly, Accessory spleen, Decreased circulating copper concentration, Jo...	OMIM:300972
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Hypoplasia of...	ORPHA:2166
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Knee flexion cont...	OMIM:210710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hepatomegaly, Osteoporosis,...	ORPHA:79259
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Recurrent fractures, Splenomegaly, Thrombocytopenia, Increased circu...	OMIM:222700
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,...	ORPHA:353277
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Gin...	ORPHA:508542
Houge-Janssens Syndrome 1	Congenital hip dislocation, Hydrocephalus, Gait ataxia, Scoliosis, Open mouth, Ventriculomegaly	OMIM:616355
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hyperextensibility of the finger joints, Craniosynostosis, Kyphosi...	OMIM:616914
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin...	OMIM:182940
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Lower limb spasticity, Ataxia, Microcephaly, Hydrocephalus, Upper motor neuron...	ORPHA:395
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis...	OMIM:201810
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Hypopigmentation of the skin, Hyper...	ORPHA:79277
Keipert Syndrome	Hypoplasia of the maxilla, Sensorineural hearing impairment, Tented upper lip vermilion, Exaggera...	ORPHA:2662
Legius Syndrome	Inguinal freckling, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Axil...	OMIM:611431
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Distal 17P13.1 Microdeletion Syndrome	Limited elbow movement, EEG with spike-wave complexes, Microcephaly, Generalized joint laxity, Pr...	ORPHA:319171
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Abnormal antiheli...	ORPHA:3145
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,...	ORPHA:713
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyp...	OMIM:251100
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears, Microphthalmia	OMIM:167730
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Microcephaly, Carious teeth, Osteop...	OMIM:224230
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Spasticity	OMIM:600348
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, S...	ORPHA:90051
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Eyelid apraxia, Elevated circulating creatine kinase concentratio...	OMIM:612953
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c...	ORPHA:57777
Fusariosis	Brain abscess, Sinusitis, Lung abscess, Abnormal retinal morphology, Osteomyelitis, Abnormality o...	ORPHA:228119
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, ...	OMIM:611134
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Spastic te...	OMIM:618598
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Microcephaly, Flexion contracture, Myoclonus, Spasticity, F...	OMIM:618201
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert...	ORPHA:3109
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Downturned corners of mouth, High palate, Atrial septal defect, Small earlobe, Abnorma...	OMIM:619522
Medulloblastoma	Back pain, Ataxia, Delayed cranial suture closure, Hydrocephalus, Dysmetria, Abnormal cranial ner...	ORPHA:616
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Reticular hyperpigmentation, Bone marrow hypocellularity, Abnormally low T cell rec...	OMIM:619767
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Microdontia, Tet...	OMIM:601005
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirub...	OMIM:619534
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno...	ORPHA:2975
Cutaneous Mastocytoma	Hypermelanotic macule, Hyperpigmentation of the skin, Lymphadenopathy	ORPHA:79455
Pfeiffer Syndrome	Mandibular prognathia, Hyperlordosis, Short neck, Wide nasal bridge, Hypoplasia of the zygomatic ...	ORPHA:710
African Trypanosomiasis	Tremor, Choreoathetosis, Hepatomegaly, Papilledema, Abnormal central motor function, Paralysis, H...	ORPHA:3385
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Akinesia, Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Joint contra...	OMIM:225790
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Micr...	OMIM:277600
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Ovarian Fibroma	Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif...	ORPHA:314473
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Microcephaly, Cryptorchidism, Conductive hearing...	ORPHA:1131
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Unsteady gait, Abnormal pyrami...	ORPHA:397946
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Spleno...	ORPHA:379
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Conductive hearing impair...	OMIM:218600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Hyponatremia, Abnormal external genitalia, Hypogonadotropic hypogonadism, Pre...	ORPHA:90794
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Short neck, Micrognathia, Hydrocephalus, Limitation of joint mobility, Advanced os...	OMIM:224400
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Short neck, Joint stiffness, Splenomegaly, Hepatiti...	ORPHA:584
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Tachypnea, Increased circulating interferon-ga...	ORPHA:542323
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Mitral valve calcification, Abnormal heart valve mo...	ORPHA:77261
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Anterior pituitary hyp...	OMIM:619841
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Micrognathia, Hydrocephalus, Choroid plexus cyst, Vertebral wedging, De...	OMIM:617866
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atr...	ORPHA:447788
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga...	ORPHA:171
Kallmann Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Recurrent fractures, Tremor, Cryptorc...	ORPHA:478
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration, El...	OMIM:606002
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Uterine leiomyoma, Platyspondyly, H...	OMIM:616482
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Toluene Embryopathy	Micrognathia, Microcephaly, Cryptorchidism, Protruding ear, Thin vermilion border, Hypoplasia of ...	ORPHA:1920
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Recurr...	ORPHA:2050
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Cholangitis, Orch...	ORPHA:449563
Lujo Hemorrhagic Fever	Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Myocarditis, L...	ORPHA:319213
Blau Syndrome	Pericarditis, Hyperpigmentation of the skin, Camptodactyly of finger, Facial palsy, Abnormal reti...	ORPHA:90340
Thanatophoric Dysplasia Type 1	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, At...	ORPHA:1860
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ...	OMIM:618052
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammation, Portal fibro...	OMIM:602347
Sotos Syndrome	Accelerated skeletal maturation, Tremor, No permanent dentition, Flexion contracture, Atrial sept...	ORPHA:821
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy, Weight loss	ORPHA:26790
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El...	OMIM:210250
Optic Pathway Glioma	Precocious puberty, Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis, Melanocytic nevus	OMIM:612247
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Tropical Endomyocardial Fibrosis	Orthopnea, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Dyspnea, Sp...	ORPHA:75565
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hypermelanotic macule, Hydrocephalus, Optic atrophy, Wide mouth, Joint hyperflexibility, Failure ...	ORPHA:60040
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormal heart morphology, Abnormality of t...	OMIM:276950
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Communicating hydrocephalus, Joint dislocation, Ataxia, Poor motor coordination, T...	ORPHA:25
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Aganglionic megacolon, Short neck, Hypoplasia of the maxilla, Microcep...	OMIM:609460
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Cleft palate...	ORPHA:137675
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Congenital hip dislocation, Hydrocephalus, Hemivertebrae, Wide nasal bridge, Mitra...	OMIM:104350
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Hypospadias, Precocious puberty, Long philtrum, Recurrent patellar dislocation, Mic...	OMIM:615877
Cherubism	Jaw swelling, Optic neuropathy, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Nar...	OMIM:118400
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Dela...	OMIM:608328
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Hydrocephalus, Orofacial cleft, Bifid thoracic vertebrae...	ORPHA:268249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Elevated circulating creatine kinase concentration, Micrognath...	OMIM:253280
Cushing Disease	Lymphopenia, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Intra-oral hyperpigmentat...	ORPHA:96253
Achondroplasia	Lumbar hyperlordosis, Limited hip extension, Hydrocephalus, Generalized joint laxity, Lumbar kyph...	OMIM:100800
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Failure to th...	OMIM:235555
Dyskeratosis Congenita, X-Linked	Reticulated skin pigmentation, Leukopenia, Premature loss of teeth, Pterygium, Hypospadias, Ataxi...	OMIM:305000
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, EEG with burst su...	OMIM:617713
Lymphatic Malformation 6	Abnormal pinna morphology, Micrognathia, Splenomegaly, Cupped ear, Hydrocele testis, Scoliosis, A...	OMIM:616843
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy	OMIM:619183
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Micrognathia, Absent external genitalia, Asplenia, Hydrocephalu...	OMIM:273395
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Ataxia, Peritonitis, Limitation of joint mobility, Lymphadenopathy, Arthritis, Recu...	ORPHA:343
Riddle Syndrome	Generalized lymphadenopathy, Ataxia, Elevated circulating alpha-fetoprotein concentration, Microc...	ORPHA:420741
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepati...	OMIM:613812
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor, Weight loss, Hypokalemia, Goiter	OMIM:613239
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Joint laxity, Dental crowding, Kyphoscoliosis, Bilateral cryptorchidism, H...	OMIM:617402
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology	ORPHA:1540
Acalvaria	Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Systemic Lupus Erythematosus	Hemolytic anemia, Chorea, Oral ulcer, Cheilitis, Lymphadenopathy, Depression, Leukopenia, Arthrit...	ORPHA:536
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Dextrocardia, Hydrocephalus, Abnormality of the vertebral column, Transposition of...	OMIM:314390
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha...	ORPHA:1572
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Abnormal pinna morphology, Reduced C-peptide level...	ORPHA:556955
Holoprosencephaly 7	Alobar holoprosencephaly, Holoprosencephaly, Median cleft palate, Hypoplasia of the premaxilla, B...	OMIM:610828
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, High p...	OMIM:218040
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Microcephaly, Carious...	ORPHA:1110
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Pericardial ...	OMIM:181000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Ventricular septal defect, Spastic tetraplegia, Biventricular hypertrophy, Atheto...	OMIM:615474
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Retinal dystrophy, Aganglionic megacolo...	ORPHA:2318
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Recurrent fractures, Craniosynostosis, Joint stiffness, Campto...	ORPHA:83
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Flexion cont...	OMIM:613154
Okamoto Syndrome	Tented upper lip vermilion, Abnormally large globe, Primum atrial septal defect, Downturned corne...	ORPHA:2729
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Situs inversus totalis, Absent frontal sinuses, Asplenia, Conductive...	OMIM:244400
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Irritability, Hypertonia, Cirrhosis, ...	OMIM:616539
Colchicine Poisoning	Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo...	ORPHA:31824
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hyperpigmentation of the skin, Decreased circulating renin level, Isosexual precocious puberty, P...	ORPHA:90795
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Ventricular septal defect, Micrognathia, Microcytic anemia, Sple...	OMIM:619525
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Cupped ...	OMIM:612863
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Weight loss, Abnormal liver parenchyma morphology, ...	ORPHA:1332
Distal Deletion 19P	Low-set, posteriorly rotated ears, Vaginal hernia, Ventricular septal defect, Hypoplasia of the m...	ORPHA:96129
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Ventricular septal defect, Overweight, High, narrow palate, Hydrocephalus, Sen...	OMIM:619575
Biotinidase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Hyperammonem...	OMIM:253260
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233710
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97282
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T...	ORPHA:238468
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Downturned corners of mouth, Hepatic fibrosis, Hypocalcemia, Atria...	OMIM:243800
Metachromatic Leukodystrophy	Dystonia, Ataxia, Incoordination, Hearing impairment, Tremor, Decreased nerve conduction velocity...	ORPHA:512
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Ventriculomegaly	OMIM:614120
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233690
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo...	ORPHA:288
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee flexion contr...	OMIM:600920
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Do...	ORPHA:2131
Wiskott-Aldrich Syndrome	Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Dyspne...	ORPHA:906
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Singleton-Merten Syndrome 1	Osteopenia, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, Joint subluxation, Subvalv...	OMIM:182250
Peters Plus Syndrome	Micrognathia, Short neck, Bicuspid pulmonary valve, Clitoral hypoplasia, Widely spaced teeth, Con...	ORPHA:709
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Communicating hydrocephalus, Joint laxity, Lumbar hyperlordosis, Low-set, ...	ORPHA:457359
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Tremor, Oral-pharyngeal dysp...	ORPHA:506358
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Hypokalemia, Left ventricular hypertrophy, Polydipsia, Tinnitus	ORPHA:251274
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Ge...	OMIM:620099
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Hydrocephalus, Unsteady gait, Scoliosis	OMIM:617542
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Meningioma	Back pain, Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Neopl...	ORPHA:2495
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab...	ORPHA:314478
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Microcephaly, Hydrocephalus, Sensorineural...	OMIM:615219
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy, Weight loss	ORPHA:411703
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
L1 Syndrome	Aganglionic megacolon, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Depression, Ga...	ORPHA:275543
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets, Bilateral sensorineural hearing impairment	OMIM:602722
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Macroglossia, Lef...	ORPHA:308552
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Abnormal circulating porphyrin concent...	ORPHA:95159
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorc...	ORPHA:96191
Immunodeficiency 55	Absent natural killer cells, Microcephaly, Lymphadenopathy, Neutropenia, Lymphopenia	OMIM:617827
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Microcephaly, Hydrocephalus,...	OMIM:309801
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight lo...	ORPHA:729
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi...	ORPHA:615
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Bone pain, ...	ORPHA:53715
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Hepatocellu...	OMIM:276700
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond...	ORPHA:423
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of...	OMIM:613001
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Ataxia, Aganglionic megacolon, Splenomegaly, Sensorineural hearing impairment, Abno...	ORPHA:163746
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:306400
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Conjugated hyperbilir...	ORPHA:30391
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Paralysis, Sensorineural hearing impairment, Rickets, Bone pain, ...	ORPHA:18
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Dysphagia	OMIM:207950
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Delayed s...	ORPHA:391487
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu...	OMIM:610505
Lymphangioleiomyomatosis	Retinal hamartoma, Hydrocephalus, Abnormality of the lymphatic system, Optic atrophy, Chyloperica...	ORPHA:538
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Tremor, Short neck, Protruding ear, W...	OMIM:612474
Thyroid Lymphoma	Lymphadenopathy, Dysphagia, Goiter	ORPHA:97285
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Ventricular septal defect, Hypospadias, Abnormal pinna morpho...	OMIM:236680
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Neurooculorenal Syndrome	Ectopic posterior pituitary, Mixed hearing impairment, Dextrocardia, Micrognathia, Conjugated hyp...	OMIM:620305
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Elevated circulating creatine kinase concentration, Hydrocephalus, Buphthalmos...	OMIM:616538
Spondyloepimetaphyseal Dysplasia, Krakow Type	Ulnar deviation of the wrist, Elbow contracture, Hydrocephalus, Delayed pubic bone ossification, ...	OMIM:618162
Papa Syndrome	Arthritis, Limitation of joint mobility, Lymphadenopathy	ORPHA:69126
Fetal Akinesia Deformation Sequence 1	Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Short nec...	OMIM:208150
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Hypokalemia, Left ventricular hypertrophy, Polydipsia, Failure to thriv...	ORPHA:320
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, C...	OMIM:607361
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi...	ORPHA:54595
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical tooth, Aplas...	OMIM:305100
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Hypopla...	ORPHA:3044
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss, Periodic paralysis, Goiter	OMIM:188580
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lym...	ORPHA:2331
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Brady...	OMIM:137440
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Micrognathia, Tremor, Microvesicular hepatic steatosis, Aortic valve atres...	OMIM:220111
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Absence of Stensen duct, Decreased response to growth hormone stimulation tes...	OMIM:604292
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Bradykinesia, Depression, Clumsiness...	ORPHA:199351
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Camptodactyly of finger, Microdontia, Hypoplasia of the maxilla, Abnormality...	ORPHA:920
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Abnormal repetitive mannerisms, Patent foramen ovale, ...	OMIM:619325
Nasopalpebral Lipoma-Coloboma Syndrome	Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Bilateral micr...	ORPHA:2399
Aase-Smith Syndrome I	Abnormal pinna morphology, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft p...	OMIM:147800
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia	ORPHA:319218
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati...	OMIM:208540
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Communicating hydrocephalus, Joint laxity, Posteriorly rotated ears, Hyper...	OMIM:617011
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Thanatophoric Dysplasia, Type I	Hydrocephalus, Platyspondyly, Severe platyspondyly, Short neck	OMIM:187600
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Limitation of joint mobility, Cleft palate, High palate, Atre...	ORPHA:93259
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Paralysis, Respiratory paralysis, Periodic hypokalemic paresis, Mildly elev...	ORPHA:681
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla...	ORPHA:228396
Gitelman Syndrome	Neoplasm of the pancreas, Salt craving, Paralysis, Pericardial effusion, Hypermagnesemia, Gout, I...	ORPHA:358
Familial Hyperaldosteronism Type I	Hypokalemia, Adrenal hyperplasia, Polydipsia, Tinnitus	ORPHA:403
Chikungunya	Joint stiffness, Periostitis, Cervical lymphadenopathy, Ankle joint effusion, Osteolysis, Synovit...	ORPHA:324625
Familial Mediterranean Fever	Pericarditis, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lymphadenopathy, Arthritis, Or...	ORPHA:342
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Cleft palate, Anotia, Microtia, ...	OMIM:616462
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Viss Syndrome	Dyspnea, Asthma, Pneumothorax, Increased circulating IgE level, Hypereosinophilia, Increased circ...	OMIM:619472
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia, Periodic paralysis	OMIM:613345
Acute Radiation Syndrome	Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin, Throm...	ORPHA:454831
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cleft of chin, Narrow palate, Abno...	OMIM:101400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Prominent metopic ridge, Optic nerve hypoplasia, Joint hypermobility, Hydrocephalu...	ORPHA:457284
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den...	OMIM:620232
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Tuberous Sclerosis Complex	Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,...	ORPHA:805
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Microcephaly, Sensorineural hearing impairment, Lo...	OMIM:618500
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Sensorineural hearing impairment, Hypokalemia, Dysdiadochokinesis, Increase...	OMIM:612780
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Tsh-Secreting Pituitary Adenoma	Osteopenia, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Female hypogonadism, Elevate...	ORPHA:91347
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Nephroblastoma	Aniridia, Neoplasm of the liver, Lymphadenopathy, Weight loss	ORPHA:654
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Hemolytic anemia, Elevated circulating creatine kinase concentration, Retinal arte...	OMIM:175780
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ...	OMIM:613095
Early Infantile Epileptic Encephalopathy	Hyperactivity, Ventricular septal defect, EEG with spike-wave complexes, Microcephaly, Tremor, Pr...	ORPHA:1934
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme...	ORPHA:2095
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Short neck, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palat...	OMIM:616546
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Dextrocardia, Hydrocephalus, Abnormal vitreous humor...	ORPHA:1571
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ...	ORPHA:567983
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Osteomalacia, Intrahepatic cholestasis, Rickets, Hypophosphatemia, Hy...	OMIM:227810
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting, Hypokalemia, Hypomagnesemia, Ventriculomegaly	OMIM:618314
Leptospirosis	Hepatomegaly, Pericarditis, Papilledema, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Lymph...	ORPHA:509
Gitelman Syndrome	Salt craving, Ataxia, Paralysis, Hypokalemia, Increased circulating renin level, Hypomagnesemia, ...	OMIM:263800
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Microcephaly, Labial hypertroph...	ORPHA:508
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, Cardiomegaly, Cleft palate, Cardiomyopathy, Abnormal heli...	ORPHA:158687
Nephronophthisis 18	Hydrocephalus, Portal fibrosis, Retinitis, Cholestasis	OMIM:615862
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Hydro...	OMIM:617088
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Jaundice, Sensorineural hearing impairment, Dysphagia, Increased CSF la...	OMIM:617248
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Joint stiffness, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, S...	ORPHA:2182
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Hydrocephalus, Hypoplasia of the iris, Small pituit...	OMIM:614195
Multiple Endocrine Neoplasia Type 2	Joint laxity, Cervical neoplasm, Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia...	ORPHA:653
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Cachexia, Microcephaly, Hydrocephalus, Optic atrophy, Numerous pigmented freckles, Spasti...	ORPHA:220295
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El...	ORPHA:97287
Alström Syndrome	Abnormality of dental color, Thoracic scoliosis, Decreased response to growth hormone stimulation...	ORPHA:64
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Dural Sinus Malformation	Papilledema, Ataxia, Parkinsonism, Pulsatile tinnitus, Myelopathy, Hydrocephalus, Poor coordinati...	ORPHA:97339
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Accelerated skelet...	OMIM:202010
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Small for gestational age, Hypokalemia, Failure to thrive, Decreased ci...	OMIM:218030
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lip telangiecta...	OMIM:613471
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Sturge-Weber Syndrome	Retinal detachment, Abnormal retinal vascular morphology, Hydrocephalus, Optic atrophy, Gingival ...	ORPHA:3205
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Short nose, Hypoplasia of the zygomatic bone	ORPHA:2835
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Conductive hearing impai...	OMIM:304120
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt...	OMIM:249400
Melkersson-Rosenthal Syndrome	Facial palsy, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia, Abnormal autonomic nervo...	ORPHA:2483
Iniencephaly	Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Hydrocephalus, Ane...	ORPHA:63259
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Hypokalemia, Polydipsia, Tinnitus, Decreased circulating renin level	ORPHA:231580
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia, Periodic paralysis	OMIM:170400
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia	OMIM:611489
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100080
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100075
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalu...	ORPHA:2369
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response, Hypertonia	ORPHA:163985
Liddle Syndrome	Hypokalemia	ORPHA:526
Mercury Poisoning	Tremor, Hypokalemia, Anorexia, Dystonia	ORPHA:330021
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Hyperpigmentation of t...	ORPHA:573278
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,...	ORPHA:677
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Loeys-Dietz Syndrome 1	Joint laxity, Bicuspid aortic valve, Craniosynostosis, Micrognathia, Hydrocephalus, Bicuspid pulm...	OMIM:609192
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele, Cardiomyopa...	ORPHA:2119
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Familial Hyperaldosteronism Type Ii	Hypokalemia, Adrenal hyperplasia, Tinnitus	ORPHA:404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea...	OMIM:615287
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Holoprosencephaly 14	Ventriculomegaly, Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueduct...	OMIM:619895
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Craniosynostosis, Micrognathia, Downturned corners of mouth, Aniridia	ORPHA:1064
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Irritability, Hypokal...	ORPHA:1501
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia, Periodic paralysis	OMIM:267200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Conductive...	ORPHA:306542
Plague	Hepatomegaly, Chapped lip, Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Slurred speech, ...	ORPHA:707
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100082
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Hemifaci...	ORPHA:466677
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Conotruncal defect, Cleft palate, Anotia, Microtia	OMIM:243440
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Adrenal hyperplasia, Polydipsia, Decreased circulating renin level	OMIM:613677
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Cleft upper lip, Hydroc...	OMIM:612284
Laurin-Sandrow Syndrome	Tarsal synostosis, Cryptorchidism, Hydrocephalus, Limitation of joint mobility, Downturned corner...	ORPHA:2378
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia, Tinnitus, Ovarian neoplasm	ORPHA:231632
Nelson Syndrome	Generalized hyperpigmentation, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenoc...	ORPHA:199244
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Oeis Complex	Absence of the sacrum, Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambi...	OMIM:258040
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Ly...	ORPHA:79078
Hyperekplexia 1	Exaggerated startle response, Hip dislocation, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Scoliosis, Retrognathia	ORPHA:91387
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Decreased level of plasminogen, Gingival overgrowth, Gingivitis, Perio...	ORPHA:722
Neurofibromatosis, Type I	Inguinal freckling, Spina bifida, Aqueductal stenosis, Hydrocephalus, Axillary freckling, Genu va...	OMIM:162200
Holoprosencephaly 2	Median cleft lip and palate, Aplasia of the premaxilla, Remnants of the hyaloid vascular system, ...	OMIM:157170
Cholera	Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia, Lethargy	ORPHA:173
Yellow Fever	Low back pain, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o...	ORPHA:286
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Chylous ascites, Hypoa...	ORPHA:90363
Loeys-Dietz Syndrome 2	Joint laxity, Bicuspid aortic valve, Protrusio acetabuli, Craniosynostosis, Micrognathia, Hydroce...	OMIM:610168
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Small for ge...	OMIM:601678
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, EEG with burst suppression, Hydrocephalus, Increased myocardi...	OMIM:261740
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar...	ORPHA:91350
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemi...	ORPHA:100078
Plasminogen Deficiency, Type I	Hydrocephalus, Decreased level of plasminogen, Gingival overgrowth, Gingivitis, Periodontitis, Da...	OMIM:217090
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Abnorm...	OMIM:241200
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,...	ORPHA:411629
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hypertonia, Ataxia, Hydrocephalus	ORPHA:31
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Micrognathia, Hydrocephalus, Low-set ears, Ascites, Simple ear	OMIM:617667
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Microcephaly, Irritability, Lateral ventricle dilatation, Hypertoni...	OMIM:618367
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response, Hypertonia	OMIM:272800
Sacral Defect With Anterior Meningocele	Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni...	OMIM:600145
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Prominent metopic ridge, Cardiomegaly, Accelerate...	OMIM:130650
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia,...	ORPHA:2736
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Clumsiness, Hypochloremia, Protruding ear, Hypokalemia, ...	ORPHA:89938
Townes-Brocks Syndrome 1	Bifid scrotum, Holoprosencephaly, Chorioretinal coloboma, Atrial septal defect, Hypospadias, Bifi...	OMIM:107480
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss	ORPHA:52417
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity	OMIM:307000
Dermatomyositis	Pulmonary arterial hypertension, Abnormal eosinophil morphology, Respiratory insufficiency, Weigh...	ORPHA:221
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Ankylosis, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Papilledema, Prominent metopic ridge, Stapes an...	OMIM:614188
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Isolated Posterior Meningocele	Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube...	ORPHA:268810
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Rieger anomaly, Hypospadias, Decreased response to growth hormone stimu...	OMIM:180500
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Ataxia, Microcephaly, Hypokalemia, Extra-axial cerebrospinal fluid accumulation, Hy...	OMIM:618426
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr...	ORPHA:411634
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi...	OMIM:613717
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Subvalvular...	ORPHA:47159
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive	OMIM:214700
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus, Ataxia, Ovarian neoplasm	ORPHA:65285
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Hydrocephalus, Hypopigmented skin patches, Congenital giant mel...	ORPHA:626
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Short nose, Sensorineural hearing impairment	OMIM:122880
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Abnormality of the pancreas, Reduced bone mineral density, Lymphopenia, An...	ORPHA:935
Arachnoiditis	Hydrocephalus, Tinnitus, Hearing impairment	ORPHA:137817
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Tetralogy of Fallot, Communicating hydrocephalus, Anomalous pulmonary venous return	ORPHA:2184
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bridge, Cleft palate, High palate, Hyp...	ORPHA:989
Romano-Ward Syndrome	Hypokalemia, Abnormal autonomic nervous system physiology, Hearing impairment	ORPHA:101016
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the o...	OMIM:300106
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis...	ORPHA:100086
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Tracheomalacia, Cardiomegaly, Partial anomalous pul...	ORPHA:95430
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Tinnitus, Decreased circulating renin level	ORPHA:231625
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the lymphatic system, Abnormal heart morphology	ORPHA:137667
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Abnormal pinna morphology, Micrognathia, Microcephaly, High palate,...	OMIM:614437
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Conductive hearing impairment, Ataxia	ORPHA:1861
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Helix Syndrome	Hypokalemia, Hyperparathyroidism, Polydipsia, Hypermagnesemia	OMIM:617671
Legius Syndrome	Hyperactivity, Inguinal freckling, Acute monocytic leukemia, Axillary freckling, Ovarian neoplasm...	ORPHA:137605
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Anorexia, Ovarian neopla...	ORPHA:100079
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Hypomagnesemia 2, Renal	Hypokalemia, Chondrocalcinosis, Hypomagnesemia	OMIM:154020
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Fai...	OMIM:613090
Exstrophy-Epispadias Complex	Bifid scrotum, Spina bifida, Bifid uterus, Microcephaly, Epispadias, Cryptorchidism, Cystocele, P...	ORPHA:322
Ablepharon-Macrostomia Syndrome	Microtia, third degree, Microtia, first degree, Hypoplastic labia majora, Short upper lip, Wide m...	OMIM:200110
Bartter Syndrome, Type 3	Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Increased circulating renin ...	OMIM:607364
Ciliary Dyskinesia, Primary, 43	Chronic sinusitis, Noncommunicating hydrocephalus, Abdominal situs inversus	OMIM:618699
Thoracoabdominal Syndrome	Hypospadias, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the grea...	OMIM:313850
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Bone pain, Weight loss, Hypophosphatemia, Increased s...	ORPHA:3337
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:219730
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Pol...	OMIM:602522
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Hypokalemia, Ambiguous genitalia, Femal...	ORPHA:786
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Cardiomegaly, Lip telangiectasia, Thick vermilion border, Tinn...	ORPHA:79280
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016

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 Spred1

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 Spred1.

No publications found that use IMPC mice or data for Spred1.

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MGI Allele	Allele Type	Produced
Spred1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Spred1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Spred1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Spred1 MGI:2150016

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

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X-ray

Human diseases caused by Spred1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data