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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
increased circulating alanine transaminase level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.85×10^-05
decreased grip strength	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.64×10^-05
decreased circulating alkaline phosphatase level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.63×10^-29
tremors	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.45×10^-12
abnormal skin coloration	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.02×10^-10
enlarged heart	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal brain morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased kidney weight	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	9.93×10^-05
enlarged spleen	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lymphocyte cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.41×10^-08
abnormal ovary morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased effector memory T-helper cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.22×10^-06
anophthalmia	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
vertebral fusion	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.27×10^-05
abnormal cranium morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.16×10^-11
abnormal zygomatic bone morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	8.73×10^-17
enlarged lymph nodes	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.01×10^-11
abnormal mandible morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.46×10^-08
abnormal snout morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.92×10^-07
increased neutrophil cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.81×10^-10
increased CD4-positive NK T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.46×10^-12
increased circulating potassium level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.67×10^-05
increased spleen weight	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.46×10^-29
increased NK T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.58×10^-12
abnormal skin morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal retina morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.69×10^-09
abnormal vertebrae morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.72×10^-05
increased effector memory CD8-positive, alpha-beta T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.22×10^-05
increased circulating creatine kinase level	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.59×10^-05
abnormal auditory brainstem response	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.34×10^-16
abnormal vertebral arch morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.21×10^-05
decreased locomotor activity	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	9.31×10^-06
increased memory-marker CD4-positive NK T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.85×10^-12
abnormal tooth morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.72×10^-15
fusion of vertebral arches	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.15×10^-06
abnormal head size	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	8.62×10^-22
increased freezing behavior	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.99×10^-12
abnormal startle reflex	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.92×10^-05
increased thigmotaxis	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.17×10^-05
hydrocephaly	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased body weight	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.55×10^-05
abnormal heart morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal head morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.84×10^-21
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	8.27×10^-06
abnormal bone structure	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small seminal vesicle	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal maxilla morphology	Spred1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.25×10^-14

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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 (1902 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Legius Syndrome		High, narrow palate, Low-set ears, Inguinal freckling, Micrognathia, Short neck, Attention defici...	OMIM:611431
Legius Syndrome		Inguinal freckling, Acute monocytic leukemia, Hearing impairment, Male urethral meatus stenosis, ...	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	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Cockayne Syndrome Type 1	Hearing impairment, Difficulty walking, Anophthalmia, Cryptorchidism, Delayed eruption of primary...	ORPHA:90321
Immunodeficiency 88	Eosinophilia	OMIM:619630
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 32B	Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosino...	OMIM:226990
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Developmental And Epileptic Encephalopathy 36	Low-set ears, Optic atrophy, Microretrognathia, Self-mutilation, Abnormality of extrapyramidal mo...	OMIM:300884
Cockayne Syndrome Type 2	Hearing impairment, Difficulty walking, Anophthalmia, Cryptorchidism, Delayed eruption of primary...	ORPHA:90322
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi...	ORPHA:66624
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Infantile Sialic Acid Storage Disease	Osteopenia, Nephrotic syndrome, Hypopigmentation of the skin, Failure to thrive, Ascites, Gingiva...	OMIM:269920
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Ventriculomegaly, Tip-toe gait, Elbow contracture, Difficulty walking, Elevated circulating creat...	OMIM:606612
Holoprosencephaly	Spasticity, Chorioretinal coloboma, Abnormality of the spleen, Abnormal antihelix morphology, Ano...	ORPHA:2162
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Decreased pr...	ORPHA:169154
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Microphthalmia, Syndromic 12	Wide nasal bridge, Hypoplastic left atrium, Retrognathia, Micrognathia, Anophthalmia, Cryptorchid...	OMIM:615524
Mucopolysaccharidosis-Plus Syndrome	Chorioretinal hypopigmentation, Short neck, Atrial septal defect, Neutropenia, Hepatomegaly, Neph...	OMIM:617303
Myopathy With Extrapyramidal Signs	Difficulty walking, Ventricular septal defect, Hypervalinemia, Short neck, Clonus, Ataxia, Hepato...	OMIM:615673
Trisomy 13	Low-set ears, Abnormal helix morphology, Abnormality of the ureter, Abnormal antihelix morphology...	ORPHA:3378
Verheij Syndrome	Wide nasal bridge, Renal hypoplasia, Small for gestational age, Retrognathia, Long philtrum, Rena...	OMIM:615583
Meckel Syndrome, Type 8	Low-set ears, Occipital encephalocele, Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Enc...	OMIM:613885
Mirage Syndrome	Hypospadias, Scoliosis, Microphallus, Recurrent urinary tract infections, Radial club hand, Lymph...	OMIM:617053
Kbg Syndrome	Bilateral conductive hearing impairment, Long philtrum, Delayed skeletal maturation, Persistent o...	ORPHA:2332
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Recurrent otitis media, Splenomegaly, Oral u...	OMIM:608971
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Aarskog-Scott Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Genu recurvatum, Dela...	ORPHA:915
Esophagitis, Eosinophilic, 2	Eosinophilia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Failure to thrive	OMIM:610247
Koolen-De Vries Syndrome	Cryptorchidism, Overfriendliness, Bicuspid aortic valve, Everted lower lip vermilion, Hypospadias...	ORPHA:96169
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Glut1 Deficiency Syndrome 2	Hypoglycorrhachia, Increased CSF lactate, Splenomegaly, Tremor, Reduced haptoglobin level, Reticu...	OMIM:612126
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Lymphopenia, Decreased...	ORPHA:331206
Mantle Cell Lymphoma	Anorexia, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Congenital Toxoplasmosis	Ventriculomegaly, Hearing impairment, Ascites, Failure to thrive in infancy, Abnormality of retin...	ORPHA:858
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear...	OMIM:617519
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal vertebral morphology, Ventriculomegaly, Microcephaly, Attention deficit hyperactivity di...	OMIM:618709
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Optic atrophy, Dental crowding, Exaggerated median tongue furrow, Hyperp...	ORPHA:313892
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na...	OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Failure to thrive secondary to recurrent infections, Lymphopenia...	ORPHA:169160
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Hearing impairment, Pancytopenia, Hepatomegaly, Facial paralysis, Osteomyelitis, H...	OMIM:259700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:603909
Mucolipidosis Ii Alpha/Beta	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Limitation of joint mobility, Myelo...	OMIM:252500
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Decreased response ...	OMIM:609053
Cohen Syndrome	Micrognathia, Open mouth, Genu valgum, Mitral valve prolapse, Neutropenia, High, narrow palate, H...	OMIM:216550
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Cockayne Syndrome A	Carious teeth, Limitation of joint mobility, Cryptorchidism, Hip contracture, Delayed eruption of...	OMIM:216400
Ring Chromosome 21 Syndrome	Spasticity, Thoracic hemivertebrae, Abnormal heart morphology, Azoospermia, Microcephaly, Gait di...	ORPHA:1445
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology	ORPHA:98848
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Short neck, Atrial se...	ORPHA:505248
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Hepatic Venoocclusive Disease With Immunodeficiency	Microcephaly, Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,...	OMIM:300280
Walker-Warburg Syndrome	Low-set ears, Anophthalmia, Cryptorchidism, Retinal detachment, Microphthalmia, Chorioretinal dys...	ORPHA:899
Cockayne Syndrome B	Carious teeth, Limitation of joint mobility, Cryptorchidism, Delayed eruption of primary teeth, S...	OMIM:133540
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Optic atrophy, Failure to thrive, Abnormal macula...	OMIM:608799
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Microphthalmia, Syndromic 9	Low-set ears, Micrognathia, Anophthalmia, Cryptorchidism, Ventricular septal defect, Atrial septa...	OMIM:601186
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Supernumerary nipple, Recurrent otitis media, Micrognathia, Short neck, Beaking of ...	OMIM:213980
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Hyperbilirubinemia, Pancytopenia,...	OMIM:259720
Sandhoff Disease	Hearing impairment, Failure to thrive, Cherry red spot of the macula, Splenomegaly, Ataxia, Hepat...	ORPHA:796
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Cryptorchidism, Hip...	OMIM:193700
1Q21.1 Microduplication Syndrome	Hypospadias, Failure to thrive, Tetralogy of Fallot, Cryptorchidism, Attention deficit hyperactiv...	ORPHA:250994
Atypical Teratoid Rhabdoid Tumor	Limitation of joint mobility, Cerebral palsy, Hemiplegia/hemiparesis, Irritability, Hydrocephalus...	ORPHA:99966
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Tetraparesis, Lymphopenia, Lymph node hypoplasia, Ataxia, ...	OMIM:613179
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
H Syndrome	Hearing impairment, Cleft upper lip, Delayed skeletal maturation, Osteolysis, Microcytic anemia, ...	ORPHA:168569
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Shallow acetabular foss...	OMIM:201000
Microphthalmia With Limb Anomalies	Low-set ears, Capitate-hamate fusion, Retrognathia, Cleft upper lip, Camptodactyly of 2nd-5th fin...	OMIM:206920
Immunodeficiency 53	Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Impaired lymphocyt...	OMIM:617585
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Inability to walk, Large earlobe, Myoclonus, Anophthalmia, Hypsarrhythmia, E...	ORPHA:411986
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Loss of ambulation, Microcephaly, Irritability, Increased CSF int...	OMIM:615010
Lateral Meningocele Syndrome	Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Sho...	OMIM:130720
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:620532
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hypogonadism, Micrognathia, Splenomegaly, Hepatomegaly, Microcephaly, Joint contr...	OMIM:608540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosi...	OMIM:304790
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Micrognathia, Open mouth, Genu valgum, Cryptorchidism, Sensor...	ORPHA:193
Microphthalmia With Linear Skin Defects Syndrome	Clitoral hypertrophy, Hearing impairment, Abnormal earlobe morphology, Hypopigmented skin patches...	ORPHA:2556
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Koolen-De Vries Syndrome	Open mouth, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Everted lower lip v...	OMIM:610443
Immunodeficiency 27A	Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelit...	OMIM:209950
Birk-Landau-Perez Syndrome	Optic atrophy, Renal hypoplasia, Progressive sensorineural hearing impairment, Hyperechogenic kid...	OMIM:617595
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy, Orbital craniosynostosis, Micrognathia, Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Immunodeficiency 7	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia	OMIM:615387
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Optic atrophy, Carious teeth, Mandibular osteomyelitis, Joint dislo...	ORPHA:53
Wolf-Hirschhorn Syndrome	Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Ventricular septal defect, Radiou...	OMIM:194190
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Micrognathia, Emotional lability, Parkinsonism, Short neck, EEG with generalized ...	OMIM:300055
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemipa...	ORPHA:444463
Burkitt Lymphoma	Abnormal lymph node morphology, Neoplasm of the oral cavity, Abnormality of the spleen, Abnormali...	ORPHA:543
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Dilated cardiomyopathy, Tip-toe gait, Difficulty walking, Exercise-induced myoglobinuria, Elevate...	OMIM:607155
Roifman Syndrome	Biconvex vertebral bodies, Downturned corners of mouth, Long philtrum, Recurrent otitis media, He...	ORPHA:353298
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased ...	ORPHA:90045
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Myoclonus, Abnormal retinal morphology on macular OCT...	ORPHA:251004
Gaucher Disease	Gingival bleeding, Aortic valve calcification, Hearing impairment, Cherry red spot of the macula,...	ORPHA:355
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Joint swellin...	OMIM:612852
Fried Syndrome	Abnormal optic nerve morphology, Hearing impairment, Aggressive behavior, Gait disturbance, Hydro...	ORPHA:85335
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Low-set ears, Abnormal dental morphology, Malar prominence, Mic...	ORPHA:2522
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Ventricular se...	OMIM:113000
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Unilateral renal agenesis, Proximal tubulopathy, Ventriculomegaly, Retrognathia, F...	OMIM:614576
Gm1 Gangliosidosis	Low-set ears, Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Narrow mouth, Abnorm...	ORPHA:354
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Failure to thrive, Cardiomyopathy, Anorexia, Renal insufficiency, Splenomegaly, Hy...	ORPHA:79312
Charge Syndrome	Low-set ears, Lymphopenia, Unilateral microphthalmos, Micrognathia, Anophthalmia, Cryptorchidism,...	OMIM:214800
Roifman Syndrome	Biconvex vertebral bodies, Downturned corners of mouth, Long philtrum, Recurrent otitis media, Sp...	OMIM:616651
Aicardi-Goutieres Syndrome 4	Low-set ears, Spasticity, Ventriculomegaly, Pancytopenia, Hepatosplenomegaly, Splenomegaly, CSF l...	OMIM:610333
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce...	OMIM:300853
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Thoracic hemivertebrae, Microgn...	OMIM:268310
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Kaposiform Lymphangiomatosis	Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Fractures of the long bones, P...	ORPHA:464329
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Broad-based gait, Elbow flexion contracture, Tremor, Microcephaly, Aggressive beha...	OMIM:619470
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Dysphagia, ...	ORPHA:216873
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaund...	OMIM:603552
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Meckel Syndrome	Multicystic kidney dysplasia, Micrognathia, Anophthalmia, Cryptorchidism, Congenital hepatic fibr...	ORPHA:564
Trisomy 1Q	Low-set ears, Small scrotum, Multicystic kidney dysplasia, Microretrognathia, Ventriculomegaly, C...	ORPHA:261344
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Hearing impairment, Abnormal cranial nerve morphology, Hemip...	ORPHA:2345
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lower limb pain, Leukocytosis, Splenomegaly, Sensorineural hearing...	OMIM:611762
Pycnodysostosis	Carious teeth, Delayed cranial suture closure, Hepatosplenomegaly, Micrognathia, Mild conductive ...	ORPHA:763
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Hand tremor, Postural tremor, Restless legs, Upper limb pain, Sensorineural hearin...	ORPHA:99947
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Increased LDL cholesterol concentration, Tetraplegia, Ataxia, Hepatomegaly, Jau...	OMIM:267700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentati...	OMIM:618845
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l...	ORPHA:100024
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Neuraminidase Deficiency	Cardiomyopathy, Cherry red spot of the macula, Ascites, Urinary excretion of sialylated oligosacc...	OMIM:256550
Kniest Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Hearing impairment, Abnormal...	ORPHA:485
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c...	ORPHA:449400
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Low-set ears, Microcytic anemia, Hepatosplenomegaly, Cubitus valgus, Short neck, Deep philtrum, P...	OMIM:619750
Diabetic Embryopathy	Hearing impairment, Micrognathia, Cryptorchidism, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:1926
Beemer Lethal Malformation Syndrome	Wide nasal bridge, Ambiguous genitalia, Hydrocephalus, Thrombocytopenia	OMIM:209970
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi...	ORPHA:90652
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Proteus Syndrome	Depigmentation/hyperpigmentation of skin, Mandibular hyperostosis, Facial hyperostosis, Open mout...	OMIM:176920
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Weight loss, Leukocytosis	ORPHA:2902
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Myoclonus, Splenomegaly, Hepatomegaly, Thrombocyt...	OMIM:610539
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal...	OMIM:619902
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Cinca Syndrome	Joint dislocation, Abnormality of neutrophils, Hearing impairment, Abnormal joint morphology, Pse...	ORPHA:1451
Progressive Supranuclear Palsy	Memory impairment, Depression, Falls, Emotional lability, Irritability, Cognitive impairment, Dem...	ORPHA:683
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Elbow dislocation, Abnormal form of the vertebral bodies, Abn...	ORPHA:2916
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Micrognathia, Open mouth, Sensorineural hearing impairment, Decreased body weight, ...	OMIM:618342
Niemann-Pick Disease, Type A	Spasticity, Failure to thrive, Cherry red spot of the macula, Inability to walk, Sea-blue histioc...	OMIM:257200
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Abnormal helix morphology, Hearing impairment, O...	ORPHA:61
48,Xxyy Syndrome	Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Radioulnar synostosis, Ataxia, Motor...	ORPHA:10
Leishmaniasis	Abnormal oral mucosa morphology, Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnorma...	ORPHA:507
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Carious teeth, Mandibular osteomyelitis, Facial paralysis, Cranial hyperostosis, E...	OMIM:259710
Temple Syndrome	Precocious puberty, Bifid uvula, Recurrent otitis media, Decreased testicular size, Obesity, Micr...	OMIM:616222
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Ventriculomegaly, Hypoplastic acetabulae, Cherry red spot of the macula, Myoclonus...	OMIM:230650
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Ve...	ORPHA:373
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Emanuel Syndrome	Low-set ears, Aortic valve stenosis, Hearing impairment, Recurrent otitis media, Micrognathia, Cr...	OMIM:609029
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Microcephaly, Vertebral fusion	OMIM:251250
Hurler Syndrome	Abnormal vertebral morphology, Spastic paraparesis, Limitation of joint mobility, Hearing impairm...	ORPHA:93473
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Mevalonic Aciduria	Low-set ears, Hepatosplenomegaly, Fluctuating hepatomegaly, Ataxia, Elevated circulating C-reacti...	OMIM:610377
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Vocal cord paresis, Spasticity, Hearing impairment, Genu valgum, Urina...	ORPHA:581
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholo...	ORPHA:1802
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Weight loss, Hepatomegaly, Hypogonadotropic hypogonadism, Arthritis, Stiff interphalan...	ORPHA:465508
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage...	OMIM:617610
Matthew-Wood Syndrome	Low-set ears, Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, H...	ORPHA:2470
Proteus-Like Syndrome	Genu recurvatum, Irregular hyperpigmentation, Thymus hyperplasia, Abnormality of the parathyroid ...	ORPHA:2969
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Lipid accumulation in hepatocytes, Hepatomegaly, High palate, Macrovesicular hepati...	OMIM:608836
Hydrolethalus	Low-set ears, Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Low-set, posterior...	ORPHA:2189
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventriculomegaly, Joint dislocation, Recurrent urinary tract infections, Lymphopenia, Joint stiff...	OMIM:620210
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na...	ORPHA:93315
Diaphanospondylodysostosis	Low-set ears, Unossified sacrum, Tracheomalacia, Nephrogenic rest, Nephroblastomatosis, Horseshoe...	OMIM:608022
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, Splenomegal...	ORPHA:397596
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Genu valgum, Cry...	ORPHA:534
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circul...	OMIM:617388
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Abnormal form of the vertebral bodies, Retrognathi...	ORPHA:3412
Subacute Inflammatory Demyelinating Polyneuropathy	Increased CSF protein concentration, Decreased motor nerve conduction velocity, Decreased amplitu...	ORPHA:206594
Griscelli Syndrome	Bone marrow hypocellularity, Spasticity, Hepatitis, Abnormal circulating lipid concentration, Hyp...	ORPHA:381
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Pontocerebellar Hypoplasia, Type 15	Spastic tetraplegia, Hydrocephalus, Hypertonia, Thrombocytopenia, Anemia, Dystonia, Chronic neutr...	OMIM:619302
Mogs-Cdg	Optic atrophy, Retrognathia, Hepatosplenomegaly, External genital hypoplasia, Thoracic scoliosis,...	ORPHA:79330
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Focal EEG disch...	ORPHA:3077
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Cryptorchidism, Anophthalmia, Orbital encephalocele, Dandy-Walker mal...	OMIM:164180
Lamb-Shaffer Syndrome	Ataxia, Optic atrophy, Abnormal temper tantrums, Thoracic kyphosis, Micrognathia, Microcephaly, M...	ORPHA:530983
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Renal hypoplasia, Renal agenesis, Long philtrum, Obesity, Micrognathia, Malar flatt...	ORPHA:171839
Phenylketonuria	Osteopenia, Depression, Hypopigmentation of the skin, Tremor, Microcephaly, Phenylalaninuria, Low...	ORPHA:716
Sialidosis Type 1	Wide nasal bridge, Aminoaciduria, Abnormal form of the vertebral bodies, Delayed skeletal maturat...	ORPHA:812
Felty Syndrome	Bone marrow hypocellularity, Irregular hyperpigmentation, Limitation of joint mobility, Abnormal ...	ORPHA:47612
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Parkinsonism, Cirr...	ORPHA:77259
Ogden Syndrome	Low-set ears, Everted upper lip vermilion, Delayed cranial suture closure, Thick upper lip vermil...	OMIM:300855
Frontometaphyseal Dysplasia 1	Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral valve prola...	OMIM:305620
Fucosidosis	Low-set ears, Hearing impairment, Cherry red spot of the macula, Beaking of vertebral bodies, Ant...	OMIM:230000
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con...	OMIM:620366
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Tetraplegia, Ataxia, Hepatomegaly, Jaundice, ...	OMIM:603553
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Narrow mouth, Abn...	ORPHA:138
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Micrognathia, Decreased skull ossification, Ventricular septal d...	OMIM:616897
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Increased CSF protein concentration, Hypoplasia of the maxilla, Ventriculomega...	OMIM:218000
Pontocerebellar Hypoplasia, Type 14	Spastic tetraplegia, Hydrocephalus, Thrombocytopenia, Hypertonia, Dystonia, Chronic neutropenia	OMIM:619301
Cinca Syndrome	Patellar overgrowth, Hearing impairment, Progressive sensorineural hearing impairment, Hepatosple...	OMIM:607115
Sialidosis Type 2	Nephropathy, Hearing impairment, Abnormal macular morphology, Ascites, Splenomegaly, Tremor, Atax...	ORPHA:87876
Optic Atrophy 11	Optic atrophy, Ventriculomegaly, Hearing impairment, Cherry red spot of the macula, EEG with foca...	OMIM:617302
Mosaic Trisomy 20	Hearing impairment, Micrognathia, Cryptorchidism, Abnormal mitral valve morphology, Ventricular s...	ORPHA:1724
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hearing impairment, Anophthalmia, Cryptorchidism, Ventricular sept...	ORPHA:77298
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormal morphology of ...	ORPHA:1834
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Failure t...	ORPHA:443811
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Robinow Syndrome	Low-set ears, Tooth malposition, Multicystic kidney dysplasia, Small scrotum, Ankyloglossia, Mark...	ORPHA:97360
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hearing impairment, Delayed skeletal maturation, Thick lower lip vermilion, Macrot...	ORPHA:2701
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Increased mean corpuscular volume, Hearing impairment, Failure to thrive, Pancy...	ORPHA:2169
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ...	ORPHA:97362
Spinocerebellar Ataxia, Autosomal Recessive 20	Spasticity, Dental crowding, Delayed eruption of teeth, Long philtrum, Hearing impairment, Inabil...	OMIM:616354
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph...	ORPHA:289157
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cervical myelopathy, Abnormal auditory evoked potentials, Delayed skeletal maturation, Tetrapares...	OMIM:619260
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Genu valgum, Cryptorchi...	OMIM:615873
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Optic atrophy, Ventriculomegaly, Failure to thrive, Sea-bl...	OMIM:230600
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evoked potentials, Facial...	OMIM:601382
Mend Syndrome	Low-set ears, Aortic valve stenosis, Micrognathia, Cryptorchidism, Microphthalmia, Elevated 8-deh...	ORPHA:401973
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Open mouth, Cryptorchidism, Obsessive-compulsive trait, Sensorineural hearing impai...	OMIM:617796
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Microphthalmia, Syndromic 2	Aortic valve stenosis, Spastic paraparesis, Anophthalmia, Cryptorchidism, Contracture of the prox...	OMIM:300166
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Failure to thrive, Increased circulating IgE level, Lymphopenia, Decrea...	OMIM:102700
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t...	OMIM:256500
Gorlin Syndrome	Wide nasal bridge, Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Melanocytic n...	ORPHA:377
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly, Failure to thrive	OMIM:618999
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer, Polycystic ovaries, Tubulointerstiti...	ORPHA:79259
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Spasticity, Micrognathia, Cryptorchidism, Decreased body weight, High palate, Restlessness, Macro...	OMIM:300534
Emanuel Syndrome	Low-set ears, Tooth malposition, Aortic valve stenosis, Hearing impairment, Recurrent otitis medi...	ORPHA:96170
Intellectual Developmental Disorder, X-Linked 104	Wide nasal bridge, Optic atrophy, Spasticity, Retrognathia, Tremor, Aggressive behavior, Hyperact...	OMIM:300983
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Wells Syndrome	Eosinophilia	ORPHA:901
Atelis Syndrome 1	Carious teeth, Irregular hyperpigmentation, Long philtrum, Leukopenia, Glue ear, Ventricular sept...	OMIM:620184
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased CSF protein concentration, Reduced natural killer cell count, Hemophagocytosis, Abnorma...	ORPHA:158057
Otopalatodigital Syndrome Type 1	Wide nasal bridge, Limitation of joint mobility, Elbow dislocation, Synostosis of carpal bones, H...	ORPHA:90650
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hearing impairment, Thoracic hemivertebrae, Micrognathia, Ventricular septal defect, Abnormal opt...	ORPHA:508498
22Q11.2 Deletion Syndrome	Low-set ears, Carious teeth, Hearing impairment, Hypopigmented skin patches, Micrognathia, Narrow...	ORPHA:567
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hearing impairment, Micrognathia, Retinal detachment, Ataxia, High palate, Short nose, Self-injur...	OMIM:619833
Trisomy 10P	Low-set ears, Micrognathia, Absent gallbladder, Abnormality of the kidney, High palate, Rectovagi...	ORPHA:171929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Inability to walk, Elevated circulating creatine kinase concentration, Microcepha...	OMIM:613155
B4Galt1-Cdg	Wide nasal bridge, Low-set ears, Long philtrum, Splenomegaly, Elevated circulating creatine kinas...	ORPHA:79332
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Unilateral renal agenesis, Secundum atrial septal defect, Everted upper lip vermili...	OMIM:619951
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Limitation of joint mobility, Cryptorchidism, Tremor, Sensorineural hearing impairme...	ORPHA:1192
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Abnormal motor evoked potentials, Pa...	ORPHA:909
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Hearing impairment, Cryptorchidism, Decreased growth hormone responses to grow...	OMIM:101800
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cholelithiasis, Abnormality of the male genitalia, Hyperbilirubinemia, Abnorma...	OMIM:614886
Mucopolysaccharidosis Type 1	Hearing impairment, Sensorineural hearing impairment, Everted lower lip vermilion, Chronic otitis...	ORPHA:579
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormality of the dentition, Periodontitis, Hearing impairment, Melanocytic nevus, EEG abnormali...	ORPHA:1008
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Hemipares...	ORPHA:1830
Alg9-Cdg	Low-set ears, Delayed cranial suture closure, Large fleshy ears, Micrognathia, Ventricular septal...	ORPHA:79328
Hsd10 Disease, Infantile Type	Hearing impairment, Loss of ambulation, Rod-cone dystrophy, Spastic tetraparesis, Restlessness, D...	ORPHA:391428
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Orofacial cleft, Microphthalmia, ...	OMIM:611638
Immunodeficiency 114, Folate-Responsive	Carious teeth, Increased circulating ferritin concentration, Lymphopenia, Lip fissure, Aphthous u...	OMIM:620603
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Weight loss, Leukocytosis	ORPHA:2070
Immunodeficiency 23	Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropen...	OMIM:615816
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Hyperlipidemia, H...	OMIM:232220
Nasu-Hakola Disease	Spasticity, Acute leukemia, Limitation of joint mobility, Ventriculomegaly, Chorea, Bone cyst, Ir...	ORPHA:2770
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, He...	OMIM:306955
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Weigh...	ORPHA:54251
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Failure to thrive, Cutaneous abscess, Increased circulating Ig...	OMIM:243700
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Short neck, Atrial septal ...	OMIM:115150
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Optic atrophy, Splenomegaly, Cone/cone-rod dystrophy, Retinal degeneration, Rod-co...	OMIM:602271
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Ventricular septal defect, Short ...	ORPHA:1655
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Hypoplastic female external genitalia, Ventriculomegaly, Long philtrum, Microg...	OMIM:618577
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Ventriculomegaly, Thick lower lip vermilion, Hypogonadism, Decreased testicular size...	OMIM:300354
Mucopolysaccharidosis, Type Iiib	Hearing impairment, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Cardiomega...	OMIM:252920
Gaucher Disease, Perinatal Lethal	Low-set ears, Everted upper lip vermilion, Hepatosplenomegaly, Micrognathia, Open mouth, Narrow m...	OMIM:608013
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating...	OMIM:613313
Ataxia-Telangiectasia	Spasticity, Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Tremor, Polycystic ...	ORPHA:100
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Vertebral wedging, Cleft upper lip, Cardiac rhabdomyoma, Microphthalmia, Ovari...	OMIM:109400
Thrombocytopenia-Absent Radius Syndrome	Axial malrotation of the kidney, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Horsesho...	ORPHA:3320
Niemann-Pick Disease, Type B	Abnormal macular morphology, Sea-blue histiocytosis, Increased LDL cholesterol concentration, Spl...	OMIM:607616
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Addison Disease	Normocytic anemia, Thymoma, Renal salt wasting, Failure to thrive, Vitiligo, Hyperuricemia, Thiam...	ORPHA:85138
Treacher-Collins Syndrome	Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Microphthalm...	ORPHA:861
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Decreased circulating antibody level, Autoimmune hemolytic anemia, Eosinophil...	OMIM:615952
Pineocytoma	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251912
Beckwith-Wiedemann Syndrome	Nephropathy, Hearing impairment, Abnormal earlobe morphology, Cryptorchidism, Hepatoblastoma, Hep...	ORPHA:116
Omenn Syndrome	Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia	ORPHA:39041
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Abnormal mitral valve morphology, Sensorineural hearing im...	ORPHA:192
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Rickets, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, ...	OMIM:611590
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone e...	OMIM:609981
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Myoglobinuria, Urinary incontinence, Hyperkalemia, Dysphagia, Acute kidney inj...	ORPHA:94093
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Difficulty walking, Emotional lability, Loss of ambulation, Tetraplegia, Ata...	ORPHA:206443
Desmosterolosis	Low-set ears, Spasticity, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Renal hypoplas...	ORPHA:35107
Myhre Syndrome	Low-set ears, Aortic valve stenosis, Limitation of joint mobility, Hearing impairment, Enlarged v...	OMIM:139210
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Micrognathia, Nephroblastoma, Kyphosis, Sacral dimple, Enlarged kidney	OMIM:618272
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Holoprosencephaly 9	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Anophthalmia, Cryp...	OMIM:610829
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Hepato...	OMIM:619644
Mulibrey Nanism	Wide nasal bridge, Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Ve...	OMIM:253250
Aicardi Syndrome	Spasticity, Chorioretinal coloboma, Prominence of the premaxilla, Hepatoblastoma, Retinal detachm...	ORPHA:50
Fibular Hemimelia	Hypoplastic acetabulae, Limitation of joint mobility, Limited knee flexion/extension, Difficulty ...	ORPHA:93323
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Joint dislocation, Cleft upper lip, Hypoplastic heart, Micrognathia, Increased susc...	OMIM:312150
Ravine Syndrome	Spasticity, Abnormal auditory evoked potentials, Failure to thrive, Anorexia, Decreased body weig...	ORPHA:99852
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr...	OMIM:620632
Lujan-Fryns Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac...	ORPHA:776
Rhabdoid Tumor	Cerebral palsy, Hemiplegia, Renal neoplasm, Irritability, Hematuria, Neoplasm of the liver, Weigh...	ORPHA:69077
Cowden Syndrome 1	Varicocele, Hypoplasia of the maxilla, Kyphosis, Hearing impairment, Goiter, Furrowed tongue, Lym...	OMIM:158350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Spasticity, Camptodactyly of finger, Decreased testicular size, Crypto...	ORPHA:85279
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Spasticity, Hyperlysinuria, Ventriculomegaly, Failure to thrive, Incoordination, E...	OMIM:616034
Vici Syndrome	Low-set ears, Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4...	OMIM:242840
Whipple Disease	Depression, Polydipsia, Anorexia, Generalized hyperpigmentation, Myoclonus, Splenomegaly, Hyponat...	ORPHA:3452
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly	ORPHA:86893
Hurler-Scheie Syndrome	Abnormal vertebral morphology, Abnormal nerve conduction velocity, Limitation of joint mobility, ...	ORPHA:93476
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis morphology,...	ORPHA:90653
Ethanolaminosis	Cardiomegaly	OMIM:227150
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increased bone mine...	ORPHA:37748
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Ventriculomegaly, Small for gestational age, Failure to thrive, Diaste...	OMIM:609757
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Delayed skeletal maturation, Cholestasis, Splenomegaly, Hypocalcemia, Hepatome...	ORPHA:172
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Spasticity, Stomatocytosis, Hypoglycorrhachia, Inability to walk, Hemolytic anemia, Splenomegaly,...	OMIM:608885
Multiple Pterygium Syndrome, Lethal Type	Low-set ears, Joint dislocation, Hypoplastic heart, Akinesia, Micrognathia, Increased susceptibil...	OMIM:253290
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Recurrent otitis media, Lymphopenia, Si...	ORPHA:277
Aggressive Systemic Mastocytosis	Abnormal mast cell morphology, Pathologic fracture, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:98850
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Microphthalmia/Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia	OMIM:616428
Spondyloenchondrodysplasia With Immune Dysregulation	Low-set ears, Spasticity, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Increased in...	OMIM:607944
Hajdu-Cheney Syndrome	Low-set ears, Aortic valve stenosis, Periodontitis, Hearing impairment, Open bite, Micrognathia, ...	ORPHA:955
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Hearing impairment, Carpal synostosis, Hip contracture, Ventricular septal defect, ...	OMIM:178110
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Pulmonary lymp...	OMIM:235255
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Hypoplasia of the maxilla, Retrognathia, Hearing impairment, Failure to thrive...	OMIM:620157
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia, Failure to thrive, Accelerated skeletal maturation, Hydrocephalus, J...	OMIM:129850
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Large earlobe, Nephroblastoma, Joint hypermobility, Ventricular septal defect, ...	OMIM:602501
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Hurler Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Hepatosplenomegal...	OMIM:607014
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Elevated circulating carcinoemb...	ORPHA:100083
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Ventriculomegaly, Nephronophthisis, Cholestasis, Obesit...	OMIM:615630
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:168558
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Retrognathia, Bruxism, Gingival overgrowth, Retinopathy, Tremor, Self-mutilation, ...	OMIM:619422
Triploidy	Micrognathia, Narrow mouth, Cryptorchidism, Decreased skull ossification, Short neck, Hepatomegal...	ORPHA:3376
Proteus Syndrome	Low-set ears, Carious teeth, Chorioretinal coloboma, Open mouth, Cachexia, Calvarial hyperostosis...	ORPHA:744
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingu...	ORPHA:96121
Lowry-Maclean Syndrome	Low-set ears, Micrognathia, Delayed eruption of primary teeth, Hemiparesis, Hypospadias, Short no...	ORPHA:2409
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Hyperparathyroidism, Transient Neonatal	Wide nasal bridge, Osteopenia, Fractured rib, Low-set ears, Hyperparathyroidism, Unilateral renal...	OMIM:618188
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Recurrent otitis media, Splenomegaly, Follicular hyperplasia, Recurrent si...	OMIM:240500
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Ventriculomegaly, Retrognathia, Splenomegaly, Motor stereotypy, Hepatome...	OMIM:615637
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hearing impairment, Widely spaced teeth, Thick lower lip vermilion, Re...	OMIM:309900
Masa Syndrome	Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Microcephaly, Lower limb spasti...	OMIM:303350
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Spasticity, Hearing impairment, Chorioretinal coloboma, Ankyloglossia, Hyperbil...	OMIM:619475
Trimethylaminuria	Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:289548
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,...	ORPHA:521406
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Micrognathia, Narrow mouth, Splenomegaly, Renal hypoplasia/ap...	ORPHA:1046
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis	ORPHA:2807
Chops Syndrome	High, narrow palate, Optic atrophy, Downturned corners of mouth, Long philtrum, Tracheomalacia, H...	OMIM:616368
Williams Syndrome	Carious teeth, Micrognathia, Ventricular septal defect, Short nose, Macrotia, Cholelithiasis, Ren...	ORPHA:904
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph...	ORPHA:2686
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Multiple renal cysts...	ORPHA:66637
Tonne-Kalscheuer Syndrome	Wide nasal bridge, Self-injurious behavior, Broad-based gait, Spasticity, Hypospadias, Velopharyn...	OMIM:300978
Intellectual Developmental Disorder, Autosomal Recessive 48	Long philtrum, Inability to walk, Inappropriate laughter, Emotional lability, Tremor, Self-mutila...	OMIM:616269
3C Syndrome	Low-set ears, Aortic valve stenosis, Chorioretinal coloboma, Micrognathia, Abnormal mitral valve ...	ORPHA:7
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ...	OMIM:620282
Free Sialic Acid Storage Disease	Spasticity, Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Gait disturbance, A...	ORPHA:834
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Hyperechogenic kidneys, Retinopathy, Splenomegaly, Chroni...	OMIM:615636
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Synostosis of carpal bones, Elbow dislocation...	ORPHA:1106
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	EEG with burst suppression, Elevated circulating alpha-aminoadipic semialdehyde concentration, El...	OMIM:266100
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recurrent sinusitis, Decreased propo...	OMIM:607594
Histiocytosis-Lymphadenopathy Plus Syndrome	Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolaps...	OMIM:602782
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Long philtrum, Cardiomyopathy, Micrognathia, Acetabular dysplasia, Thin upper lip v...	OMIM:616549
Mohr-Tranebjaerg Syndrome	Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal pyramidal...	ORPHA:52368
Alpha-Heavy Chain Disease	Ascites, Hypocalcemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Pros...	ORPHA:449395
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Abnormal dense granules, Neutropenia, Ataxia, Hepatomegaly, Gian...	OMIM:214500
Dyskeratosis Congenita	Carious teeth, Periodontitis, Hearing impairment, Hypopigmented skin patches, Displacement of the...	ORPHA:1775
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Failure to thrive, Cherry red spot of the macula, Splenom...	OMIM:228000
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Low-set ears, Kyphosis, Failure to thrive, Long philtrum, Delayed skeletal matur...	OMIM:608776
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Sensorineural hearing impairment, H...	OMIM:230350
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic pat...	OMIM:265000
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Low-set ears, Spasticity, Hearing impairment, Difficulty walking, Ataxia, Thoracic kyphoscoliosis...	ORPHA:481152
Fg Syndrome Type 1	Broad-based gait, Slender build, Micrognathia, Open mouth, Cryptorchidism, Mitral valve prolapse,...	ORPHA:93932
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Wide nasal bridge, Low-set ears, Micrognathia, Open mouth, Abnormal oral cavity morphology, Short...	ORPHA:1516
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyelitis, Hyponatremia,...	ORPHA:171876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Keratoconus Posticus Circumscriptus	Cleft upper lip, Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbow extensi...	OMIM:244600
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Ataxia, Hepato...	ORPHA:391
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, Mi...	ORPHA:508533
Brucellosis	Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephritis, Anorex...	ORPHA:1304
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal lymphocyte morphology, Splenome...	ORPHA:2584
Smith-Lemli-Opitz Syndrome	Low-set ears, Small scrotum, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchi...	OMIM:270400
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Bilateral renal atrophy, Wrist swelling, C...	OMIM:166300
Martsolf Syndrome 1	Low-set ears, Tooth malposition, Micrognathia, Cryptorchidism, Clonus, Microphthalmia, Finger joi...	OMIM:212720
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Increased CSF lactate, Splenomegaly, Macrocytic anemia, Sensor...	OMIM:619046
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Delayed skeletal maturation, Widely spaced teeth, Herni...	OMIM:601216
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Short neck, Tetraplegia...	OMIM:257300
Pontocerebellar Hypoplasia, Type 7	Low-set ears, Tongue fasciculations, Spasticity, Thick upper lip vermilion, Micrognathia, Cryptor...	OMIM:614969
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Optic nerve aplasia, Spastic diplegia, Butterfly vertebrae, Anophthalmia,...	OMIM:206900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Failure to thrive, Abnormal labia majora morphology, Congenital adrenal hyp...	ORPHA:90791
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilatation,...	OMIM:620371
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, EEG with spike-wave complexes, Myoclonus, Tremor, Elevated circulating creati...	OMIM:614018
Poikiloderma With Neutropenia	Carious teeth, Retrognathia, Long philtrum, Recurrent otitis media, Joint stiffness, Micrognathia...	OMIM:604173
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Low-set ears, Abnormal sacral segmentation, Long philtrum, Hearing impairment, Oral-pharyngeal dy...	ORPHA:480907
Spastic Paraplegia 16, X-Linked	Spastic paraplegia, Hypoplasia of the maxilla, Shuffling gait, Urinary bladder sphincter dysfunct...	OMIM:300266
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Hyper...	OMIM:615924
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Decreased CSF 5-hydroxyindolacetic acid concentration, Decreased CSF albumin concentration, Secon...	ORPHA:404454
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cel...	OMIM:618982
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Cryptorchidism, Ventricula...	OMIM:150250
Bresek Syndrome	Low-set ears, Renal hypoplasia, Hypoplasia of the bladder, Hearing impairment, Decreased testicul...	ORPHA:85284
Tay-Sachs Disease	Hearing impairment, Cherry red spot of the macula, Incoordination, Dysphagia, Mania, Poor fine mo...	ORPHA:845
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Mucopolysaccharidosis Type 2	Limitation of joint mobility, Abnormal mitral valve morphology, Sensorineural hearing impairment,...	ORPHA:580
Griscelli Syndrome Type 2	Hemophagocytosis, Partial albinism, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, ...	ORPHA:79477
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Small for gestational age, Extra-axial ce...	OMIM:614261
Trisomy 17P	Low-set ears, Aortic valve stenosis, Hearing impairment, Micrognathia, Narrow mouth, Short neck, ...	ORPHA:261290
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Precocious puberty, Failure to thrive, Hypernatriuria, Recurrent urinary t...	ORPHA:361
Hypermanganesemia With Dystonia 2	Spasticity, Secondary microcephaly, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-...	OMIM:617013
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor	OMIM:611808
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Renal agenesis, Abnormality of the ureter, Joint stiffness, Ren...	ORPHA:3027
Oculoskeletodental Syndrome	Wide nasal bridge, Hearing impairment, Delayed skeletal maturation, Renal agenesis, Elbow flexion...	OMIM:618440
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure	ORPHA:46532
Rubinstein-Taybi Syndrome 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Incoordination, Micrognathia, N...	OMIM:180849
Schimke Immunoosseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Neutropenia, Nephrotic syndrome...	OMIM:242900
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Elevated circulating luteinizin...	OMIM:305400
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Shoulder dislocation, Micrognathia, Cryptorchidism, Mitral valve pr...	OMIM:618000
Fanconi Anemia	Hearing impairment, Hypopigmented skin patches, Aplasia/Hypoplasia of the uvula, Micrognathia, Cr...	ORPHA:84
Khan-Khan-Katsanis Syndrome	Lymphopenia, Micrognathia, Sensorineural hearing impairment, Neutropenia, Dysphagia, Short nose, ...	OMIM:618460
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Ventriculomegaly, Abnormality of ...	OMIM:109120
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen...	ORPHA:3226
Combined Immunodeficiency Due To Zap70 Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h...	ORPHA:911
Reni Syndrome	Hypoalbuminemia, Ataxia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome...	OMIM:617575
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Micrognathia, Sensorineu...	ORPHA:314588
Multiple Mitochondrial Dysfunctions Syndrome 7	Secondary microcephaly, EEG with burst suppression, Partial atrioventricular canal defect, Gingiv...	OMIM:620423
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Fraser Syndrome 1	Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Abnormal middle ear m...	OMIM:219000
Maxillonasal Dysplasia	Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy distortion of vertebrae, Microdontia...	ORPHA:1248
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Abnormality of the...	ORPHA:400
Duane Retraction Syndrome	Hearing impairment, Chorioretinal coloboma, Hypopigmented skin patches, Micrognathia, Sensorineur...	ORPHA:233
Dominant Beta-Thalassemia	Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Persistence of he...	ORPHA:231226
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration	OMIM:607091
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Anorexia, Lymphopenia, Renal insufficiency, Splenomegaly,...	ORPHA:549
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Elbow dislocation, Failure to thrive, Renal agenesis, Horseshoe kid...	ORPHA:2538
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, I...	ORPHA:829
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Failure to thrive, Lymphadenopathy	OMIM:607271
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Spasticity, Decreased testicular size, Decreased body weight, Microcep...	ORPHA:93950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Genitopalatocardiac Syndrome	Wide nasal bridge, Low-set ears, Multicystic kidney dysplasia, Hypospadias, Kyphosis, Downturned ...	ORPHA:2075
Spondylocarpotarsal Synostosis Syndrome	Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, Sensorineural hearing i...	OMIM:272460
Atypical Rett Syndrome	Spasticity, Secondary microcephaly, Loss of ambulation, Involuntary movements, Limb myoclonus, In...	ORPHA:3095
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Situs inversus totalis, ...	OMIM:613686
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Pearson Syndrome	Hearing impairment, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hypop...	ORPHA:699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ...	ORPHA:276
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Osteopenia, Spasticity, Congenital hip dislocation, Optic atrophy, Renal hypoplasi...	OMIM:617913
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Temple Syndrome	Precocious puberty, Bifid uvula, Decreased response to growth hormone stimulation test, Few cafe-...	ORPHA:254516
Choreoacanthocytosis	Temporomandibular joint crepitus, Resting tremor, Lateral ventricle dilatation, Limb dystonia, Pr...	ORPHA:2388
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hemolytic anemia, Hyperkalemia, Periodic paralysis, Hand tremor	OMIM:609153
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Angelman Syndrome	Hypoplasia of the maxilla, Broad-based gait, Mandibular prognathia, Hypopigmentation of the skin,...	OMIM:105830
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas...	OMIM:159950
Anophthalmia Plus Syndrome	Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, Anophthalmia, Vertebral se...	ORPHA:1104
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Hyperkalemic Periodic Paralysis	Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Elevated circulating creatine ki...	ORPHA:682
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Hearing impairment, Slender build, Genu valgum, Cach...	ORPHA:1328
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:618495
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Zimmermann-Laband Syndrome	Bifid uvula, Large fleshy ears, Abnormal external genitalia, Micrognathia, Wide mouth, Splenomega...	ORPHA:3473
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
49,Xxxxy Syndrome	Small scrotum, Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Overfriendliness, Ren...	ORPHA:96264
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Spasticity, Failure to thrive, Inability to walk, EEG with generalized slow activity, Chorea, Irr...	OMIM:617864
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Splenomegaly, Inc...	OMIM:619868
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Conical tooth, Failure to thrive, Recurrent otitis media, Hypopituitarism, Absent per...	ORPHA:98813
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Low-set ears, Abnormal form of the vertebral bodies, Abnormal dental enamel mo...	ORPHA:2180
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Pigmentary retinopathy, Depression, Elevated circulating phytanic acid concentration,...	OMIM:614307
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Bilateral sensorineural he...	OMIM:619418
Tyrosinemia, Type I	Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Hypertrophic cardiomyopathy, Renal insuff...	OMIM:276700
12Q14 Microdeletion Syndrome	Renal hypoplasia, Downturned corners of mouth, Failure to thrive, Horseshoe kidney, Abnormality o...	ORPHA:94063
Shashi-Pena Syndrome	Low-set ears, Unilateral renal agenesis, Ventriculomegaly, Cupped ear, Retrognathia, Overfolded h...	OMIM:617190
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Abnormal helix morphology, Clitoral hypertrophy, Hearing impairment, Cholestasis, H...	OMIM:614866
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy, Depression, Genu valgum, Patellar subluxation, Hydrocephalus, Calcium oxalate neph...	OMIM:248000
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Wide nasal bridge, Ventriculomegaly, Retrognathia, Long philtrum, Large fleshy ears, Inability to...	OMIM:619556
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Cholestasis, Hepatosplenomegaly, Micrognathia, Hypersplenism, Congenital hepatic fi...	ORPHA:731
Wilson Disease	Difficulty walking, Hepatic steatosis, Increased body weight, Cirrhosis, Weight loss, Acute hepat...	ORPHA:905
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Hypogonadism, Joint hypermobility, Cubitus v...	ORPHA:1875
Ritscher-Schinzel Syndrome 1	Low-set ears, Aortic valve stenosis, Hypoplastic left heart, Decreased response to growth hormone...	OMIM:220210
Gracile Bone Dysplasia	Failure to thrive, Ascites, Ankyloglossia, Aniridia, Hypocalcemia, Decreased skull ossification, ...	OMIM:602361
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Depression, Hearing impairment, Delayed skeletal maturation, Increased ci...	OMIM:617675
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Hennekam Syndrome	Low-set ears, Lymphopenia, Narrow mouth, Pulmonary lymphangiectasia, Ectopic kidney, Abnormal pin...	ORPHA:2136
Graft Versus Host Disease	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Hyperbilirubinemia, Dupuytren contractur...	ORPHA:39812
Lig4 Syndrome	Wide nasal bridge, Acute leukemia, Pancytopenia, Micrognathia, Leukocytosis, Cryptorchidism, Hepa...	ORPHA:99812
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Babesiosis	Depression, Limitation of joint mobility, Leukopenia, Renal insufficiency, Splenomegaly, Thromboc...	ORPHA:108
Pettigrew Syndrome	Self-injurious behavior, Optic atrophy, Mandibular prognathia, Spasticity, High-frequency hearing...	OMIM:304340
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Ventricular septal defect, Stippling of the epiphyses of the dist...	ORPHA:79345
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Oral ulcer, Ataxia, Elevat...	OMIM:615688
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Abnormal optic nerve morphology, Long philtrum, C...	ORPHA:1101
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Jacobsen Syndrome	Low-set ears, Spasticity, Chorioretinal coloboma, Micrognathia, Cryptorchidism, Ventricular septa...	OMIM:147791
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Lumbar hyperlordosis, D...	ORPHA:370959
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Vitiligo, Renal insufficiency, Hyperuricemia, Hyponatremia,...	ORPHA:95409
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Depression, Hearing impairment, Delayed skeletal maturation, Increased ci...	ORPHA:502423
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Monosomy 18Q	Aortic valve stenosis, Bilateral conductive hearing impairment, Slender build, Open mouth, Sensor...	ORPHA:1600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Spasticity, Optic atrophy, Craniofacial osteosclerosis, ...	OMIM:618476
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Carpal synostosis, Hepatosplenomegaly, Micrognathia, Patellar apl...	OMIM:274000
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Neonatal hyperbilirubinemia, Dental crowding, Tip-toe gait, Depression...	ORPHA:293939
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Failure to thrive, Cardiomyopathy, Chole...	OMIM:615895
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Cerebrooculonasal Syndrome	Hypoplasia of penis, Long philtrum, Widely spaced teeth, Low-set, posteriorly rotated ears, Anoph...	ORPHA:66625
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Thin vermilion bord...	OMIM:156510
Mannosidosis, Alpha B, Lysosomal	Thoracolumbar kyphosis, Spasticity, Widely spaced teeth, Limb ataxia, Gait ataxia, Malar flatteni...	OMIM:248500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Osteogenesis Imperfecta	Carious teeth, Hearing impairment, Tetraparesis, Enlarged vertebral pedicles, Micrognathia, Genu ...	ORPHA:666
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Bifid uvula, Ventriculomegaly, Cupped ear, Hearing impairment, Tetralogy of Fallot,...	OMIM:617159
Acrodysostosis	Wide nasal bridge, Hypoplasia of the maxilla, Joint dislocation, Delayed eruption of teeth, Abnor...	ORPHA:950
Mccune-Albright Syndrome	Renal phosphate wasting, Hearing impairment, Increased circulating prolactin concentration, Osteo...	ORPHA:562
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Depression, Ventriculomegaly, Microphallus, Cryptorchidism, Tremor, Joint hypermobili...	OMIM:300957
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m...	ORPHA:2585
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Cerebrooculonasal Syndrome	Low-set ears, Anophthalmia, Encephalocele, High palate, U-Shaped upper lip vermilion, Short nose,...	OMIM:605627
Gaucher Disease Type 2	Spasticity, Splenomegaly, Dysphagia, Hepatomegaly, Dystonia, Flexion contracture	ORPHA:77260
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, ...	ORPHA:1133
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Micrognathia, Open mouth, Emotional lability, Ventricular septal defect, Atrial sep...	OMIM:309520
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nasal bridge, Optic atrophy, Spasticity, Abnormal optic nerve morphology, Long philtrum, Mic...	ORPHA:2526
Congenital Syphilis	Hearing impairment, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly,...	ORPHA:499009
48,Xxxy Syndrome	Small scrotum, Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Radioulnar synostosis...	ORPHA:96263
Beta-Thalassemia Major	Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Persistence of he...	ORPHA:231214
Macrocephaly/Autism Syndrome	Long philtrum, Recurrent otitis media, Speech apraxia, Lymphopenia, Obesity, Large for gestationa...	OMIM:605309
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Delayed vertebral ossification, Genu valgum, Delayed pubic bone ossifi...	OMIM:613330
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis, Cardiomegaly, Hydrocephalus, Macroorchidism, Spastic tetraplegia, Macrotia	OMIM:300886
Noonan Syndrome 12	Ventriculomegaly, Decreased response to growth hormone stimulation test, Lymphopenia, Tetralogy o...	OMIM:618624
Frontonasal Dysplasia 1	Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Joint contracture of the hand, Conduc...	OMIM:136760
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess, Lymphadenopathy, Ne...	OMIM:150550
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Sensorineural hearing imp...	ORPHA:99027
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Carious teeth, Lateral ventricle dilatation, Secondary microcephaly, Decreased body w...	OMIM:619229
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Contractures of the large joints, Inability to walk, Protruding tongue, Mi...	ORPHA:324410
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventr...	OMIM:312870
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Pde4D Haploinsufficiency Syndrome	Hypospadias, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Abnormal dental enamel...	ORPHA:439822
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hearing impairment, Premature loss of primary teeth, Optic nerve compr...	ORPHA:667
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Retinopathy, Microcephaly, Lethargy, Gait disturbance, Hydrocephalus	ORPHA:26
Pfapa Syndrome	Splenomegaly, Abnormal oral cavity morphology, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly	ORPHA:42642
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Spasticity, Abnormal amplitude of pattern reversal visual evoked potentials, Abnor...	OMIM:125250
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Optic atrophy, Hypoplasia of the maxilla, Spasticity, Subependymal cysts, Thin upper lip vermilio...	OMIM:618737
Fryns Microphthalmia Syndrome	Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Unicornuate uterus, Ne...	OMIM:600776
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Low-set ears, Small scrotum, Ventriculomegaly, Natal tooth, Microphallus, Hype...	OMIM:612651
Dubowitz Syndrome	Hearing impairment, Delayed cranial suture closure, Abnormal female external genitalia morphology...	ORPHA:235
Joubert Syndrome With Hepatic Defect	Low-set ears, Nephropathy, Multicystic kidney dysplasia, Occipital encephalocele, Chorioretinal c...	ORPHA:1454
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Failure to thrive, Secondary microcephaly, Hypertrophic cardiomyopathy...	OMIM:612938
Focal Dermal Hypoplasia	Low-set ears, Chorioretinal coloboma, Supernumerary nipple, Anophthalmia, Cryptorchidism, Microph...	OMIM:305600
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Rod-cone dystrophy, Ataxia, Hepatomegaly, Nephrotic syndrome, Macrotia, Osteop...	OMIM:212065
Krabbe Disease	Optic atrophy, Progressive spasticity, Increased CSF protein concentration, Hearing impairment, F...	OMIM:245200
Hermansky-Pudlak Syndrome 2	Low-set ears, Carious teeth, Periodontitis, Enlarged platelet dense granules, Recurrent otitis me...	OMIM:608233
Congenital Sialidosis Type 2	Low-set ears, Optic atrophy, Spasticity, Hearing impairment, Cherry red spot of the macula, Ascit...	ORPHA:93400
Meckel Syndrome, Type 1	Low-set ears, Natal tooth, Occipital encephalocele, Abnormality of the ureter, Micrognathia, Cryp...	OMIM:249000
Immunodeficiency 48	Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:269840
Klippel-Feil Syndrome 2, Autosomal Recessive	Conductive hearing impairment, Cleft upper lip, Sensorineural hearing impairment, Cervical C2/C3 ...	OMIM:214300
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Hypocomplementemic Urticarial Vasculitis	Irregular hyperpigmentation, Joint dislocation, Cerebral palsy, Ascites, Abnormal heart valve mor...	ORPHA:36412
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, C...	OMIM:618886
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Vitiligo, Follicular hyperplas...	OMIM:619846
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Splenomegaly, Kyphoscoliosi...	OMIM:608149
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Broad-based gait, Hearing impairment, Atresia of the external auditory can...	OMIM:601808
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Lymphadenopathy, Thrombocytopenia, B l...	OMIM:618048
Mucopolysaccharidosis, Type Iiic	Hearing impairment, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Kyphoscoli...	OMIM:252930
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Sclerosis of foot bon...	ORPHA:2905
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Plaa-Associated Neurodevelopmental Disorder	Micrognathia, Sensorineural hearing impairment, Progressive spastic quadriplegia, Hypsarrhythmia,...	ORPHA:521426
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to...	OMIM:616881
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Crouzon Syndrome	Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mult...	ORPHA:207
Immunodeficiency 50	Lymphopenia, Neutropenia, Recurrent urinary tract infections	OMIM:300988
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Broad-based gait, Lymphopenia, Cryptorchidism, Sensorineural hearing impairmen...	OMIM:616541
4H Leukodystrophy	Abnormality of the dentition, Optic atrophy, Delayed eruption of teeth, Decreased response to gro...	ORPHA:289494
Fanconi Anemia, Complementation Group D2	Low-set ears, Hearing impairment, Pancytopenia, Cryptorchidism, Neutropenia, Microphthalmia, Dupl...	OMIM:227646
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte...	ORPHA:57
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur...	OMIM:620010
Pseudo-Torch Syndrome 1	Low-set ears, Increased CSF protein concentration, Spasticity, Cleft lip, Microretrognathia, Fail...	OMIM:251290
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Low-set ears, Micrognathia, Narrow mouth, Genu valgum, Mitral valve prolapse, Radioulnar synostos...	OMIM:245600
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Cockayne Syndrome	Spasticity, Carious teeth, Difficulty walking, Action tremor, Cryptorchidism, Delayed eruption of...	ORPHA:191
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Cerebrofacioarticular Syndrome	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Self-injurious behavior, Caudal appenda...	ORPHA:314679
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Aicardi Syndrome	Precocious puberty, Optic atrophy, Block vertebrae, Dilated third ventricle, Lateral ventricle di...	OMIM:304050
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cry...	OMIM:617052
Radio-Tartaglia Syndrome	Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Ataxia, High palate, M...	OMIM:619312
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Pancytopenia, Myoclonus, Tremor,...	OMIM:607426
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Enla...	ORPHA:50918
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonis...	OMIM:213600
Gm1 Gangliosidosis Type 1	Platyspondyly, Low-set ears, Spasticity, Hearing impairment, Long philtrum, Beaking of vertebral ...	ORPHA:79255
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Renal salt wasting, Failure to thrive, Hypernatriuria, Ascites, Abnormal urine ...	ORPHA:275761
Cantu Syndrome	Wide nasal bridge, Platyspondyly, Congenital hypertrophy of left ventricle, Long philtrum, Thick ...	OMIM:239850
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg...	OMIM:616828
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepat...	OMIM:614480
Gaucher Disease, Type Iii	Spastic paraparesis, Depression, Pancytopenia, Myoclonus, Splenomegaly, Decreased body weight, Th...	OMIM:231000
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, ...	OMIM:616719
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Abnormality of the urinary system, Cherry red spot of the macula, Hypertr...	OMIM:230500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Retinal dysplasia, Dilated cardiomyopathy, Myocardial fibrosis, Encephalocele, Ele...	OMIM:253800
Immunodeficiency 10	Hypoplasia of the iris, Recurrent otitis media, Recurrent urinary tract infections, Splenomegaly,...	OMIM:612783
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Hajdu-Cheney Syndrome	Low-set ears, Micrognathia, Narrow mouth, Genu valgum, Cryptorchidism, Ventricular septal defect,...	OMIM:102500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Contracture of the distal interphalangeal joint of the fingers, Micrognathia, Narro...	ORPHA:83617
Edinburgh Malformation Syndrome	Low-set ears, Downturned corners of mouth, Failure to thrive, Joint stiffness, Micrognathia, Narr...	ORPHA:1895
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Tooth malposition, Micrognathia, Narrow mouth, Abnormal optic disc morphology, Tars...	ORPHA:363417
Charcot-Marie-Tooth Disease Type 1F	Hand tremor, Fasciculations, Inability to walk, Decreased nerve conduction velocity, Head tremor,...	ORPHA:101085
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Hearing impairme...	ORPHA:3109
Lethal Congenital Contracture Syndrome 10	Low-set ears, Long philtrum, Stiff neck, Micrognathia, Thoracic scoliosis, Cardiomegaly, Hypoplas...	OMIM:617022
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Hearing impairment, Narrow m...	OMIM:300998
Microphthalmia With Brain And Digit Anomalies	Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Sensorineural hearing impairment, Microceph...	ORPHA:139471
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing...	OMIM:101200
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Micrognathia, Abnormal pyramidal sign, High palate, Dysphagia, Short nose, Rigidity...	OMIM:617527
Trichothiodystrophy 3, Photosensitive	Low-set ears, Carious teeth, Natal tooth, Hearing impairment, Failure to thrive, Bilateral crypto...	OMIM:616395
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Low-set ears, Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Macrotia, Met...	OMIM:277400
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Decreased CSF 5-hydroxyindolacetic acid concentration, Tremor, Rigidit...	OMIM:261640
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Hypoplasia of the maxilla, Protruding ear, Microcephaly, Hydrocephalus, Small ...	OMIM:618302
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Hepatic steatosis,...	ORPHA:42
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Ectopic thymus tissue, Micrognathia, Anop...	OMIM:113620
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Abnormal form of the vertebral ...	ORPHA:2635
Kabuki Syndrome	Cryptorchidism, Sensorineural hearing impairment, Renal hypoplasia/aplasia, Vertebral clefting, D...	ORPHA:2322
Transaldolase Deficiency	Low-set ears, Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Ventricular septal defect, ...	OMIM:606003
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Hearing impairment, Cryptorchidism, Posteriorly rotated ears,...	OMIM:227330
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Renal hypoplasia, Downturned corners of mouth, Decreased testicular size, Cleft so...	OMIM:619321
Mucopolysaccharidosis, Type Iva	Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Short neck, A...	OMIM:253000
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low-set ears, Unilateral renal agenesis, Retrognathia, Renal agenesis, Muscular ventricular septa...	OMIM:619227
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Spasticity, Ventriculomegaly, Hearing impairment, Splenomega...	OMIM:272200
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition, Hyperkalemia, Periodic paralysis	ORPHA:757
Monosomy 9Q22.3	Low-set ears, Narrow mouth, Short neck, Thickened ears, Microphthalmia, Short nose, Retinopathy, ...	ORPHA:77301
Kbg Syndrome	Long philtrum, Delayed skeletal maturation, Macrotia, Macrodontia, Tented upper lip vermilion, Cr...	OMIM:148050
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Low-set ears, Limitat...	ORPHA:178303
Acrocephalopolydactylous Dysplasia	Low-set ears, Hepatic fibrosis, Polysplenia, Ascites, Short neck, Pancreatic fibrosis, Cystic ren...	OMIM:200995
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Sensorineural hearing impairment, Sh...	OMIM:608779
Asparagine Synthetase Deficiency	Dilated third ventricle, Micrognathia, Clonus, Hypsarrhythmia, Spastic tetraplegia, Macrotia, Dil...	OMIM:615574
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Retrognathia, Widely spaced teeth, Large fleshy ears, Gait ataxia, Myoclonus, Tremo...	OMIM:619092
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Secondary microcephaly, Abnormal eating behavior, Protruding tongue, Ataxia, Dy...	ORPHA:98794
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hypogonadism, Decreased testicular size, Splenomegaly, Tremor, Emotional labil...	OMIM:201100
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly	OMIM:618852
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Hearing impairment, Abnormal joint morphology, Hypopituitarism, P...	ORPHA:811
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Splenomegaly, Sensorineural hearing impairment, Aplasia/Hypo...	ORPHA:290
Marden-Walker Syndrome	Low-set ears, Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Ventricular septal defect...	ORPHA:2461
Developmental And Epileptic Encephalopathy 95	Hearing impairment, Cryptorchidism, Ataxia, Hepatomegaly, Long nose, Inability to walk, Multiple ...	OMIM:618143
Shprintzen-Goldberg Syndrome	Low-set ears, Elbow dislocation, Micrognathia, Genu valgum, Cryptorchidism, Mitral valve prolapse...	ORPHA:2462
3Mc Syndrome 2	Wide nasal bridge, Abnormal vertebral morphology, Caudal appendage, Downturned corners of mouth, ...	OMIM:265050
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the ver...	ORPHA:93262
Alexander Disease	Spasticity, Emotional lability, Short neck, Abnormal pyramidal sign, Clonus, Tetraplegia, Ataxia,...	ORPHA:58
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Failure to thrive, Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Osteopet...	OMIM:615085
Alexander Disease Type I	Spasticity, Failure to thrive, Cachexia, Abnormal pyramidal sign, Dysphagia, Hydrocephalus, Ataxi...	ORPHA:363717
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Tetraplegia, Poikilocytosis, Elliptocytosis, Hepatom...	OMIM:618278
Rosaï-Dorfman Disease	Anemia, Paraplegia, Lymphadenopathy, Osteolysis	ORPHA:158014
Pediatric-Onset Graves Disease	Polydipsia, Failure to thrive, Goiter, Splenomegaly, Tremor, Emotional lability, Hyperkinetic mov...	ORPHA:525731
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Ventriculomegaly, Long philtrum, Cardiomyopathy, Dysmetria, Tremor, Severe temper ...	OMIM:617710
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Periodic hypokalemic paresis, Micrognathia, High palate, Hypoplasia of the maxilla,...	OMIM:170390
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Secondary microcephaly, Micrognathia, Urinary incontinence, High palate, Motor stereotypy, Short ...	ORPHA:476126
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Abnormality of the dentition, Lymphopenia, Kyphoscoliosis, Irritability, Microcephaly, Motor ster...	ORPHA:391307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Elevated circulating creatine kinase concentration, Left ventricular hypertroph...	OMIM:613153
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, Ventricular septal defect, Atrial septal defect, High palate, Motor stereotypy, Dys...	OMIM:617061
Trichothiodystrophy	Spasticity, Carious teeth, Cryptorchidism, Ventricular septal defect, Abnormal pyramidal sign, Ne...	ORPHA:33364
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Depression, Restlessness, Hearing impairment, Abnormal fear-induced be...	ORPHA:100924
14Q22Q23 Microdeletion Syndrome	Small scrotum, Renal hypoplasia, Ventriculomegaly, Cupped ear, Downturned corners of mouth, Delay...	ORPHA:264200
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Optic ...	OMIM:611490
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Retinal coloboma, Bifid ureter...	ORPHA:500095
Sézary Syndrome	Irregular hyperpigmentation, Abnormal lymphocyte morphology, Splenomegaly, Tremor, Lymphadenopath...	ORPHA:3162
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hearing impairment, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Sensorineural he...	OMIM:612541
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Speech apraxia, Slender build, Open mouth, Cryptorchi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Speech apraxia, Slender build, Open mouth, Cryptorchi...	ORPHA:363958
Acute Promyelocytic Leukemia	Gingival bleeding, Anorexia, Pancytopenia, Gingival overgrowth, Leukopenia, Leukocytosis, Hematur...	ORPHA:520
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul...	ORPHA:340
Pelvis-Shoulder Dysplasia	Hydranencephaly, Microglossia, Abnormal form of the vertebral bodies, Bilateral microphthalmos, C...	ORPHA:2839
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc...	ORPHA:540
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Increased circulating prolactin concentration, Cryptorchidism, Ventricular sept...	ORPHA:438213
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Hypomethioninemia, Neutropenia, Ataxia, Jaundice, Stomatitis, Macular coloboma, Poo...	ORPHA:79282
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Ventricular hypertrophy, Recurrent otitis media, Lymphopenia, Pancytopenia, Microgn...	OMIM:620654
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Spasticity, Failure to thrive, Ascites, Hypertrophic cardiomyopathy, Hyperammonemi...	OMIM:614702
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Hearing impairment, Ataxia, Hepatomegaly, Ascites, Babinski sign, Limb joint contract...	OMIM:301072
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hematuria, Hep...	OMIM:614034
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Optic atrophy, Inability to walk, Secondary microcephaly, Hypsarrhythmia, EEG abnormality, Hypert...	OMIM:618174
Aceruloplasminemia	Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c...	ORPHA:48818
Pyruvate Dehydrogenase E1-Alpha Deficiency	Wide nasal bridge, Ventriculomegaly, Small for gestational age, Long philtrum, Episodic ataxia, I...	OMIM:312170
Van Maldergem Syndrome 2	Hearing impairment, Atresia of the external auditory canal, Micrognathia, Irregular dentition, Cr...	OMIM:615546
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, B Acute Lymphoblastic Leukemia, Prominent stem of antihelix, Failure...	OMIM:619824
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Failure to thrive...	OMIM:608154
Sandhoff Disease	Ataxia, Urinary incontinence, Spasticity, Fasciculations, Cherry red spot of the macula, Hepatosp...	OMIM:268800
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Pathologic frac...	ORPHA:635
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Increased ...	ORPHA:206436
Mucopolysaccharidosis, Type Vi	Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Genu valgum, Hepatomegaly,...	OMIM:253200
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Congenital hip dislocation, Abnormality of the urinary system, Narrow mouth, M...	ORPHA:2412
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Abnormal palate morphology, A...	ORPHA:100026
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubin...	OMIM:619991
Pallister-Hall-Like Syndrome	Microglossia, Occipital encephalocele, Renal dysplasia, Anterior hypopituitarism, Micrognathia, M...	OMIM:241800
Aa Amyloidosis	Abnormal oral mucosa morphology, Nephropathy, Chronic kidney disease, Acute kidney injury, Renal ...	ORPHA:85445
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Dicarboxylic ac...	OMIM:212140
Chudley-Mccullough Syndrome	Ventriculomegaly, Severe sensorineural hearing impairment, Hydrocephalus	OMIM:604213
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Hearing impairment, Hypopigmented skin patches, Decreased nerve ...	OMIM:609136
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Weight loss, Lymphocytosis	ORPHA:139402
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Hearing impairment, Failure ...	ORPHA:500055
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Hearing impairment, Myelomeningocele, Punctate vertebral calcifications, Epiphysea...	ORPHA:1914
Coccidioidomycosis	Hearing impairment, Hypoglycorrhachia, Abnormality of the spleen, Abscess, Abnormality of the fem...	ORPHA:228123
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Failure to thrive in infancy, Abnormally low T cell receptor excision c...	OMIM:618987
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Rod-cone dyst...	ORPHA:14
Agammaglobulinemia, X-Linked	Cor pulmonale, Hearing impairment, Recurrent urinary tract infections, Recurrent otitis media, Ly...	OMIM:300755
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect...	OMIM:314390
Fraser Syndrome	Small scrotum, Atresia of the external auditory canal, Abnormal vagina morphology, Female pseudoh...	ORPHA:2052
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hip contracture, Mitral valve prolapse, Protrusio acetabuli, Osteopenia, Hypoplasia...	OMIM:259600
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Sinusitis, Hepatomegaly, Lymphadenopathy, Arthritis...	OMIM:617591
Lopes-Maciel-Rodan Syndrome	Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Abnormal pyramidal sign, D...	OMIM:617435
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Joint contracture of the hand, Ventriculomegaly, Delayed cranial suture closur...	OMIM:175700
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Conductive hearing impairment, Hearing impairment, Sensorineural heari...	OMIM:118100
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Bone marrow hypocellularity, Low-set ears, Unilateral renal agenesis, Renal hy...	OMIM:614083
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Mandibular prognathia, Abnormally large globe, Downturned corners of mouth, Cl...	OMIM:239300
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Optic atrophy, Conductive hearing impairment, Delayed eru...	ORPHA:87
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of the lymphatic system, Biliary t...	ORPHA:1414
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Small scrotum, Joint contracture of the hand, Clitoral hypertrophy, Carpal synostos...	OMIM:201750
Congenital Myopathy 22A, Classic	Wide nasal bridge, Spinal rigidity, Dental crowding, Kyphosis, Micrognathia, Open mouth, Knee con...	OMIM:620351
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Sensorineural hearing impairment, Atria...	OMIM:619512
Cowden Syndrome 5	Hypoplasia of the maxilla, Kyphosis, Hearing impairment, Goiter, Furrowed tongue, Micrognathia, N...	OMIM:615108
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Secondary microcephaly, Obesity, Tremor, Hemiparesis, Sensorineural hearing im...	OMIM:619737
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Aicardi-Goutières Syndrome	Low-set ears, Spasticity, Spastic paraparesis, Neonatal alloimmune thrombocytopenia, Difficulty w...	ORPHA:51
Intellectual Developmental Disorder, X-Linked 30	Macrotia, Thick upper lip vermilion, Open mouth, Agitation, Thin upper lip vermilion, Clumsiness,...	OMIM:300558
Frontometaphyseal Dysplasia	Joint contracture of the hand, Hearing impairment, Micrognathia, Limited elbow movement, Sensorin...	ORPHA:1826
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Desmosterolosis	Low-set ears, Spasticity, Joint contracture of the hand, Abnormal circulating cholesterol concent...	OMIM:602398
Cowden Syndrome 6	Varicocele, Hypoplasia of the maxilla, Kyphosis, Hearing impairment, Goiter, Furrowed tongue, Mic...	OMIM:615109
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Cryptorchidism, Tremor, Microcephaly, Aggressive behavior, Hypsarrhythmia, Hyperton...	OMIM:608093
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Cardiofaciocutaneous Syndrome	Genu valgum, Cryptorchidism, Short neck, Atrial septal defect, High palate, Macrotia, Short nose,...	ORPHA:1340
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Multiple Sulfatase Deficiency	Optic atrophy, Joint stiffness, Abnormality of retinal pigmentation, Splenomegaly, Sensorineural ...	ORPHA:585
Gómez-López-Hernández Syndrome	Thin vermilion border, Low-set ears, Hydrocephalus, Ataxia	ORPHA:1532
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Spasticity, Hypoplasia of the zygomatic bone, Hypopigmented skin patches, Large ea...	ORPHA:2715
Alpha-Mannosidosis, Infantile Form	Abnormality of the sphenoid sinus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Sensorineural h...	ORPHA:309282
Vitamin D-Dependent Rickets, Type 2A	Wide nasal bridge, Delayed epiphyseal ossification, Carious teeth, Rickets, Delayed eruption of t...	OMIM:277440
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Ventriculomegaly, Long philtrum, Narrow mouth, Mala...	ORPHA:261295
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla...	OMIM:601455
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Low-set ears, Ventriculomegaly, Aplastic anemia, Optic disc hypopl...	OMIM:300514
Familial Congenital Mirror Movements	Cerebral palsy, Clumsiness, Hypogonadotropic hypogonadism, Poor fine motor coordination, Fused ce...	ORPHA:238722
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Recurrent otitis media, Pancytopenia, Vitiligo, Splenomegaly, Recurrent sinusi...	OMIM:614700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Carious teeth, Micrognathia, Mitral valve prolapse, Radio...	ORPHA:536467
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Congenital Myopathy 8	Cardiomegaly, High palate, Scoliosis	OMIM:618654
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Tongue atrophy...	OMIM:601596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Mcleod Syndrome	Depression, Dilated cardiomyopathy, Cardiomyopathy, Chorea, Acanthocytosis, Splenomegaly, Reduced...	OMIM:300842
Say-Barber-Miller Syndrome	Tooth malposition, Carious teeth, Spastic paraparesis, Micrognathia, Cryptorchidism, Impaired neu...	ORPHA:3132
Congenital Bile Acid Synthesis Defect Type 1	Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, J...	ORPHA:79301
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Hyperpigmentation of the skin, Splenomegaly	ORPHA:75563
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ...	ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Occipital encephalocele, Atresia of the external auditory canal, Micrognathia, Cryp...	OMIM:236670
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Paraparesis, Gait apraxi...	OMIM:615157
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Increased CSF lactate, Leukopenia, Micrognathia, Myoclonus, Hepatic steatosis, Tremor...	OMIM:616271
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Oral ...	OMIM:615122
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly	ORPHA:88643
Hemiparkinsonism-Hemiatrophy Syndrome	Depression, Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Park...	ORPHA:306669
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Speech apraxia, Slender build, Open mouth, Narrow mouth, Cryptorc...	OMIM:300967
Herpes Simplex Virus Encephalitis	Increased CSF protein concentration, Hypoglycorrhachia, Leukocytosis, Hyponatremia, CSF lymphocyt...	ORPHA:1930
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Wide nasal bridge, Low-set ears, Downturned corners of mouth, Long philtrum, Narrow mouth, Joint ...	OMIM:617333
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ...	OMIM:301000
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Optic atrophy, Low-set ears, Ventriculomegaly, Retrognathia, Elbow flexion contr...	OMIM:617301
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio...	OMIM:618469
Neurooculocardiogenitourinary Syndrome	Low-set ears, Downturned corners of mouth, Bilateral cryptorchidism, Secondary microcephaly, Pate...	OMIM:618652
Bohring-Opitz Syndrome	Limitation of joint mobility, Micrognathia, Severe failure to thrive, Bilateral wrist flexion con...	ORPHA:97297
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Recurrent otitis media, Lymp...	OMIM:618986
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Spasticity, Spastic paraparesis, Decreased urinary urate, Cerebral palsy, Abnormal ...	ORPHA:760
Congenital Disorder Of Glycosylation, Type Iij	Failure to thrive, Splenomegaly, Irritability, Microcephaly, Cirrhosis, Limb hypertonia, Ataxia, ...	OMIM:613489
Meier-Gorlin Syndrome 1	Low-set ears, Joint contracture of the hand, Clitoral hypertrophy, Elbow dislocation, Hearing imp...	OMIM:224690
Diencephalic Syndrome	Optic atrophy, Long penis, Decreased body weight, Cachexia, Everted lower lip vermilion, Hydrocep...	ORPHA:1672
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Cranial hyperostosis, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:457240
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Undetectable visual evoked potentials, Ventricular hypertrophy, Ventriculomegaly, Hypertrophic ca...	OMIM:619051
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormal...	ORPHA:442835
Malan Syndrome	Ventriculomegaly, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla,...	OMIM:614753
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal ce...	ORPHA:97290
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Hypoplasia of the maxilla, Heari...	OMIM:301108
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Microretrognathia, Abnormality of the ankle, Conductive ...	ORPHA:1307
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Micropenis, Atrial septal d...	OMIM:618280
Sialuria	Wide nasal bridge, Low-set ears, Long philtrum, Splenomegaly, Thin upper lip vermilion, Smooth ph...	OMIM:269921
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Hematuria, Hypophosphatemia, Weight l...	OMIM:219800
Bardet-Biedl Syndrome 1	Hearing impairment, Rod-cone dystrophy, Ataxia, Abnormality of the kidney, High palate, Retinal d...	OMIM:209900
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Septate vagina, ...	OMIM:608978
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cardiomyopathy, Cervical v...	OMIM:606842
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Incre...	OMIM:610600
Solitary Median Maxillary Central Incisor	Cleft upper lip, Decreased response to growth hormone stimulation test, Anophthalmia, Prominent m...	OMIM:147250
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Anisospondyly, Low-set ears, Limitation of joint mobility, Pterygium, Abnormal...	ORPHA:1865
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Acute Monoblastic/Monocytic Leukemia	Ankle swelling, Hypochromic anemia, Acute monocytic leukemia, Oliguria, Progressive hearing impai...	ORPHA:514
Mucopolysaccharidosis Type 6	Hearing impairment, Failure to thrive, Thick lower lip vermilion, Abnormal heart valve morphology...	ORPHA:583
Floating-Harbor Syndrome	Low-set ears, Broad-based gait, Carious teeth, Dilatation of the renal pelvis, Speech apraxia, Cr...	ORPHA:2044
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Low-set ears, Delayed skeletal maturation, Dysplastic sacrum, Ca...	OMIM:613320
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Obesity, Azoospermia, Mitral valve prolapse, Cubitus valgus, Short neck, Hyd...	ORPHA:2183
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Radial dysplasia, Agenesis of permanent teeth, Microcephaly, Hydroce...	OMIM:617244
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Oral ulcer, Hepatomegaly, Elevated circulating C-reactive protei...	OMIM:620376
Spondylocostal Dysostosis 5	Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis	OMIM:122600
Rabin-Pappas Syndrome	Wide nasal bridge, Conductive hearing impairment, Retrognathia, Tracheomalacia, Failure to thrive...	OMIM:620155
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Joint hypermobility, Microphthalmia, M...	OMIM:610125
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Failure to thrive, Delayed skeletal maturation, Exocrine pancreatic in...	OMIM:612714
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Urinary retention,...	ORPHA:79124
Mucopolysaccharidosis, Type Iiia	Hearing impairment, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Ovoid thor...	OMIM:252900
Mitochondrial Complex I Deficiency, Nuclear Type 36	Spasticity, Hyperprolinemia, Cardiomegaly, Microcephaly, Perimembranous ventricular septal defect...	OMIM:619170
Fibrous Dysplasia Of Bone	Hearing impairment, Osteomalacia, Difficulty walking, Abnormality of the sphenoid sinus, Ovarian ...	ORPHA:249
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Wide nasal bridge, Downturned corners of mouth, Retrognathia, Hyperechogenic kidneys, Elevated ci...	OMIM:301110
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Undetectable visual evoked potentials, Ventriculomegaly, Retrognathia, Chorioretina...	ORPHA:163961
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, ...	ORPHA:309854
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Kyphosis, Dilatation of the renal pelvis, Lymphopenia, Micrognathia, Dysmetria, Ab...	OMIM:619708
Acro-Renal-Ocular Syndrome	Conductive hearing impairment, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma...	ORPHA:959
Intellectual Developmental Disorder, Autosomal Dominant 65	Wide nasal bridge, Low-set ears, Downturned corners of mouth, Long philtrum, Noncommunicating hyd...	OMIM:619320
Majeed Syndrome	Failure to thrive, Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomega...	ORPHA:77297
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Ascites, Hemiple...	ORPHA:93552
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Cognitive impairment	ORPHA:309246
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology...	ORPHA:284
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Stiff-Person Syndrome	Depression, Lumbar hyperlordosis, Vitiligo, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated...	OMIM:184850
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Limited knee flexion/extension, Inability to walk, Limited hip movement, Chorea, Br...	ORPHA:268
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Systemic Lupus Erythematosus 17	Lymphopenia, Chorea, Leukopenia, Oral ulcer, Optic neuritis, Thrombocytopenia, Autoimmune thrombo...	OMIM:301080
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal ce...	ORPHA:319487
Cystinosis	Nephropathy, Aminoaciduria, Rickets, Failure to thrive, Polydipsia, Portal hypertension, Retinopa...	ORPHA:213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Sensorineural hearing impairment, Retinal degeneration, Elevated circulat...	OMIM:615249
Pelizaeus-Merzbacher Disease	Broad-based gait, Hearing impairment, Progressive spastic quadriplegia, Abnormal pyramidal sign, ...	OMIM:312080
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Elevated circulating gamma-amino...	OMIM:619658
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Ventriculomegaly, Retinal dysplasia, Dilated cardiomyopathy, Camptodactyly of fing...	ORPHA:272
1Q44 Microdeletion Syndrome	Ventriculomegaly, Optic disc hypoplasia, Horseshoe kidney, Micrognathia, Vesicoureteral reflux, E...	ORPHA:238769
Tick-Borne Encephalitis	Tongue fasciculations, Hearing impairment, Incoordination, Speech apraxia, Abnormal cranial nerve...	ORPHA:297
Dandy-Walker Malformation With Postaxial Polydactyly	Wide nasal bridge, Low-set ears, Aortic valve stenosis, Microretrognathia, Dilated fourth ventric...	OMIM:220220
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal ...	ORPHA:90790
Primary Ciliary Dyskinesia	Ventriculomegaly, Conductive hearing impairment, Hearing impairment, Polysplenia, Atrial situs am...	ORPHA:244
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Systemic-Onset Juvenile Idiopathic Arthritis	Joint swelling, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated circulating C-re...	ORPHA:85414
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Mitral va...	OMIM:182212
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Enuresis, Ventriculomegaly, Cerebral palsy, Delayed cranial su...	OMIM:616260
Van Maldergem Syndrome 1	Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ...	OMIM:601390
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Difficulty walking, Recurrent otitis media, Moderate hearing impairment, Cervical C2/C3 vertebral...	ORPHA:370010
Abcd Syndrome	Abnormal auditory evoked potentials, Polycythemia, Hypopigmentation of the fundus, Hearing impair...	OMIM:600501
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Anemi...	ORPHA:457077
7Q31 Microdeletion Syndrome	Low-set ears, Abnormal temper tantrums, Hypoplasia of the maxilla, Galactosuria, Enuresis nocturn...	ORPHA:251061
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Hermansky-Pudlak Syndrome 10	Low-set ears, Albinism, Retrognathia, Ocular albinism, Splenomegaly, Smooth philtrum, Microcephal...	OMIM:617050
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Depression, Failure to thrive, Long philtrum, Ankyloglossia, Vesicoureteral re...	ORPHA:250989
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent...	OMIM:301078
Beck-Fahrner Syndrome	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Depression, Long philtrum, Open m...	OMIM:618798
Saethre-Chotzen Syndrome	Low-set ears, Hearing impairment, Delayed cranial suture closure, Open bite, Prominent crus of he...	ORPHA:794
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Increased circulating ferritin concentration, Head titubation, Absent brainstem auditory response...	ORPHA:3240
Congenital Hydrocephalus	Optic atrophy, Ventriculomegaly, Abnormal heart morphology, Sensorineural hearing impairment, Mac...	ORPHA:2185
Multiple Myeloma	Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin...	ORPHA:29073
15Q Overgrowth Syndrome	Low-set ears, Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical...	ORPHA:314585
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Nephrotic syndrome, Hepatitis, Hypomagnesemia, Failure to thrive in infancy, Ost...	ORPHA:37042
Joubert Syndrome 14	Low-set ears, Optic atrophy, Morning glory anomaly, Open mouth, Malar flattening, Tented upper li...	OMIM:614424
Wilson Disease	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrhosis, Hypo...	OMIM:277900
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level	OMIM:203400
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Deep philtrum...	ORPHA:1237
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Abnormality of the temporomandibular joint, Hepatosplenomegal...	ORPHA:85408
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Carious teeth, Natal tooth, Secondary microcephaly, Cryptorchidism, Emotio...	ORPHA:353281
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Renal hypoplasia, Narrow mouth, Camptodactyly, High...	OMIM:246560
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Failure to thrive, Macrocytic anemia, Eosinophilia, Weight loss	ORPHA:199299
Short-Rib Thoracic Dysplasia 12	Low-set ears, Natal tooth, Ventricular septal defect, Short neck, Hepatomegaly, Holoprosencephaly...	OMIM:269860
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Sea-blue histiocytosis, Retinopathy, Splenomegaly, Hyperpigmentatio...	ORPHA:158029
Alpha-N-Acetylgalactosaminidase Deficiency	Spasticity, Hearing impairment, Oligosacchariduria, Cardiomegaly, Clonus, Tetraplegia, Thick verm...	ORPHA:3137
Anencephaly 2	Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence...	OMIM:619452
Pseudotrisomy 13 Syndrome	Low-set ears, Cryptorchidism, Encephalocele, Ventricular septal defect, Atrial septal defect, Dex...	OMIM:264480
Pentalogy Of Cantrell	Hypospadias, Renal agenesis, Polysplenia, Renal dysplasia, Tetralogy of Fallot, Abnormal pericard...	ORPHA:1335
Angelman Syndrome	Broad-based gait, Protruding tongue, Polyphagia, Ataxia, Optic disc pallor, Dysphagia, Self-injur...	ORPHA:72
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypospadias, Hypoplasia of the maxilla, Hearing impairment, Abnormal heart mor...	OMIM:601499
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Difficulty walking, Exercise-induced myoglobinu...	ORPHA:99845
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Cryptorchidism, Hyponatremia, Renal salt wasting, Hyperkal...	OMIM:614736
Raine Syndrome	Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Protru...	OMIM:259775
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Renal sodium wasting, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Inc...	ORPHA:556030
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Prolidase Deficiency	Carious teeth, Hypoplasia of the zygomatic bone, Hearing impairment, Micrognathia, Genu valgum, S...	ORPHA:742
Stickler Syndrome	Hearing impairment, Open bite, Slender build, Micrognathia, Genu valgum, Mitral valve prolapse, S...	ORPHA:828
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Ventricular septal defect, Atrial septal defect, High palate, Macrotia, Pre...	ORPHA:769
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Abnormal earlobe morphology, Open bite, Short neck, Cachexia, High palate, Decr...	ORPHA:85293
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Elevated circulating luteinizing hormone level, Limi...	ORPHA:95699
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Panc...	ORPHA:2072
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Renal sodium wasting, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Inc...	ORPHA:556037
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, Slender build, High palate, Scoliosis, Kyphosis	OMIM:300676
Myoclonic-Astatic Epilepsy	Wide nasal bridge, EEG with irregular generalized spike and wave complexes, Long philtrum, Thick ...	ORPHA:1942
Mucopolysaccharidosis, Type Iiid	Low-set ears, Hearing impairment, Difficulty walking, Recurrent otitis media, Short neck, Ovoid t...	OMIM:252940
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ...	OMIM:619752
Pseudoaminopterin Syndrome	Hypoplasia of the antihelix, Synostosis of carpal bones, Micrognathia, Cryptorchidism, Mild condu...	ORPHA:221120
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration	OMIM:154276
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Optic atrophy, ...	OMIM:123500
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Kyphosis, Hypoplasia of t...	ORPHA:1798
Andersen-Tawil Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Low-set ears, Dental ...	ORPHA:37553
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Spasticity, Lateral ventricle dilatation, Micrognathia, Genu valgum, Emotional labi...	ORPHA:300570
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Greenberg Dysplasia	Low-set ears, Fractured rib, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Mi...	OMIM:215140
Trichohepatoenteric Syndrome 1	Low-set ears, Cholestasis, Narrow mouth, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaun...	OMIM:222470
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n...	OMIM:610532
Proximal 16P11.2 Microduplication Syndrome	Decreased body mass index, Failure to thrive, Tremor, Thin upper lip vermilion, Smooth philtrum, ...	ORPHA:370079
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hypoplasia of the zygomatic bone, Bifid scrotu...	ORPHA:1555
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Hydroureter, Hearing impairment, Cardiomyopathy, Siderobla...	OMIM:222300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal sacroiliac joint morphology, Abnormal...	ORPHA:32960
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormality of neutrophils, Hearing impairment, Ocular albinism, Abnormal ren...	ORPHA:2720
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Mixed hypo- and hyperpigmentation of the ski...	ORPHA:79456
Fanconi Anemia, Complementation Group C	Hearing impairment, Pancytopenia, Cryptorchidism, Ventricular septal defect, Neutropenia, Microph...	OMIM:227645
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Joint swelling, Increased proportion of CD4-positive ...	OMIM:617099
Duane-Radial Ray Syndrome	Renal hypoplasia, Optic disc hypoplasia, Renal agenesis, Retinal coloboma, Horseshoe kidney, Cros...	OMIM:607323
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Camptodactyly of finger, Abnormality of the wrist, Narrow mouth, Senso...	ORPHA:1529
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Cervical kyphosis, Elbow dislocation, Knee dislocation, Micrognathia, ...	OMIM:108721
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Brain abscess, Anuria, Leukocytosis, Hypocalcemia, Hemiparesis, Hy...	ORPHA:544482
Cockayne Syndrome Type 3	Carious teeth, Difficulty walking, Microphthalmia, Hepatomegaly, Optic disc pallor, Unsteady gait...	ORPHA:90324
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Intestinal lymphangiectasia, Hypomagnesemia, Lymphopenia, A...	ORPHA:90362
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Dental crowding, Cupped ear, Conducti...	OMIM:616367
Proboscis Lateralis	Chorioretinal coloboma, Anophthalmia, Ventricular septal defect, Microphthalmia, High palate, Hol...	ORPHA:141099
Immunodeficiency 9	Failure to thrive, Difficulty walking, Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of ...	OMIM:612782
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Anorexia, Jaundice, Elevated circulating crea...	ORPHA:99826
8P11.2 Deletion Syndrome	Hypoplasia of penis, Hypogonadism, Azoospermia, Micrognathia, Splenomegaly, Cryptorchidism, Mitra...	ORPHA:251066
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Genital ulcers, Polyarticular arthritis, Lymphopenia, Chorea, Oral ulcer, Thrombocytopenia, Hemol...	OMIM:616744
Adams-Oliver Syndrome	Failure to thrive, Ascites, Tetralogy of Fallot, Leukopenia, Portal hypertension, Abnormal pulmon...	ORPHA:974
Farber Disease	Hepatic fibrosis, Spasticity, Macular degeneration, Failure to thrive, Cherry red spot of the mac...	ORPHA:333
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Microcephaly, Neutrophil...	OMIM:266265
Fetal Cytomegalovirus Syndrome	Optic atrophy, Ventriculomegaly, Hepatitis, Chorioretinitis, Splenomegaly, Sensorineural hearing ...	ORPHA:294
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Gen...	OMIM:253010
Adult-Onset Distal Myopathy Due To Vcp Mutation	Depression, Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Facial diple...	ORPHA:329478
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peri...	ORPHA:83469
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Failure to thrive, Hemolytic anemia, Chronic he...	OMIM:308230
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Low-set ears, Small scrotum, Hearing impairment, Micrognathia, Anoph...	OMIM:607932
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Cryptorchidism, Orofacia...	ORPHA:3301
Czeizel-Losonci Syndrome	Hypoplastic helices, Abnormality of the urinary system, Low-set, posteriorly rotated ears, Ureter...	ORPHA:2437
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Increased CSF lactate, Leukocytosis, Addictive alcohol use, Left ventricular hyp...	ORPHA:90065
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss	ORPHA:183
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Thanatophoric Dysplasia	Platyspondyly, Low-set ears, Ventriculomegaly, Hearing impairment, Joint stiffness, Joint hypermo...	ORPHA:2655
Leprechaunism	Low-set ears, Nephrocalcinosis, Long penis, Clitoral hypertrophy, Failure to thrive, Overgrowth o...	ORPHA:508
Hyperphenylalaninemia, Bh4-Deficient, B	Increased CSF phenylalanine concentration, Decreased urinary neopterin level, Tremor, Rigidity, H...	OMIM:233910
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cardiomyopathy, Cholestasis, Splenomegaly, ...	ORPHA:264580
Japanese Encephalitis	Opisthotonus, Neutrophilia, Anorexia, Choreoathetosis, Cogwheel rigidity, CSF lymphocytic pleiocy...	ORPHA:79139
Hydrocephalus, Autosomal Dominant	Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Mend Syndrome	Low-set ears, Aortic valve stenosis, Microretrognathia, Failure to thrive, Crossed fused renal ec...	OMIM:300960
Gaucher Disease, Type I	Aortic valve stenosis, Pathologic fracture, Hypersplenism, Pancytopenia, Splenomegaly, Hepatomega...	OMIM:230800
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Decreased CSF 5-hydroxyindolacetic acid concentration, Failure to thrive, Incr...	ORPHA:35708
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hyperparathyroidism, Splenomegaly, Hepatomegaly, Anemia, Gingivitis, Recurrent fractu...	OMIM:618107
Waldenström Macroglobulinemia	Gingival bleeding, Normocytic anemia, Leukemia, Hearing impairment, Anorexia, Renal insufficiency...	ORPHA:33226
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Recurrent urinary tract infections, Hypocalcemic tetany, Decreased proportion ...	ORPHA:83471
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Cerebral palsy...	ORPHA:529808
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He...	ORPHA:160
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Cerebral palsy...	ORPHA:529799
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone,...	ORPHA:1786
Christian Syndrome	Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Fused cervical ver...	OMIM:309620
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Tremor, Rigidity, Dysto...	OMIM:613280
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Low-set ears, Aortic valve stenosis, Hepatosplenomegaly, Cryptorchidism, Bicuspid aortic valve, S...	OMIM:613563
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Hip dislocation, Natal tooth, Delayed eruption of teeth, Gait ataxia, ...	OMIM:614381
Geroderma Osteodysplasticum	Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis...	OMIM:231070
Amyloidosis, Hereditary Systemic 1	Increased CSF protein concentration, Spasticity, Spastic paraparesis, Hearing impairment, Cardiom...	OMIM:105210
Joubert Syndrome With Ocular Defect	Abnormal vertebral morphology, Retinal coloboma, Low-set, posteriorly rotated ears, Encephalocele...	ORPHA:220493
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Pigmentary retinopathy, Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abno...	OMIM:612582
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Osteomalacia, Recurrent otitis media, Follicular hyperplasia, Oral ulcer, We...	OMIM:619381
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Spasticity, Natal tooth, Increased circulating prolactin concentration, Recurrent o...	ORPHA:3455
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Cholelithiasis, Hypopigmentation of the skin, Erythrod...	OMIM:263700
D-Bifunctional Protein Deficiency	Low-set ears, Osteopenia, Fetal ascites, Ventriculomegaly, Retrognathia, Long philtrum, Delayed c...	OMIM:261515
Thanatophoric Dysplasia Type 2	Platyspondyly, Ventriculomegaly, Limitation of joint mobility, Hearing impairment, Encephalocele,...	ORPHA:93274
Coach Syndrome 1	Hepatic fibrosis, Spasticity, Unilateral renal agenesis, Abnormal abdomen morphology, Nephronopht...	OMIM:216360
Wildervanck Syndrome	Pseudopapilledema, Hearing impairment, Fused cervical vertebrae	OMIM:314600
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegal...	ORPHA:158048
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Advanced erupti...	ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Spasticity, Inability to walk, Horseshoe kidney, Increased CSF lactate, Tremor, Ky...	OMIM:617664
Zttk Syndrome	Low-set ears, Spasticity, Narrow mouth, Absent gallbladder, Ventricular septal defect, Atrial sep...	OMIM:617140
Down Syndrome	Atlantoaxial dislocation, Narrow mouth, Protruding tongue, Open mouth, Acute megakaryocytic leuke...	ORPHA:870
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of ...	OMIM:617780
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c...	OMIM:208920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Hyperprolinemia, Cardiomegaly, Lethargy, Hyperalaninemia, Hepatomegaly	OMIM:619064
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Ventriculomegaly, Inability to walk, Tented upper lip vermilion, Gait ...	OMIM:616362
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Retinopat...	OMIM:603903
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy, EEG abnormality, Failure to thrive	OMIM:614096
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca...	OMIM:613490
Microphthalmia, Syndromic 1	Low-set ears, Tooth malposition, Joint contracture of the hand, Hearing impairment, Chorioretinal...	OMIM:309800
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Osteopenia, Delayed skeletal maturation, Narrow mouth, Malar flattening, Eu...	ORPHA:2463
Glycogen Storage Disease Ii	Urinary incontinence, Hearing impairment, Difficulty walking, Splenomegaly, Elevated circulating ...	OMIM:232300
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Patellar aplasia, Cryptorchidism, Calcinosis, Neutropenia, Leukem...	ORPHA:221016
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Hydrocephalus, Joint hypermobility, Kyphoscoliosis	OMIM:236660
Refsum Disease, Classic	Increased CSF protein concentration, Cardiomyopathy, Elevated circulating phytanic acid concentra...	OMIM:266500
Scrub Typhus	Renal insufficiency, Splenomegaly, Tremor, Lethargy, Lymphadenopathy, Myocarditis	ORPHA:83317
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Low-set ears, Hepatitis, Delayed skeletal maturation, Failure to thrive in infancy, Hypersplenism...	OMIM:613385
Craniotelencephalic Dysplasia	Optic atrophy, Low-set, posteriorly rotated ears, Microcephaly, Hydrocephalus, Frontal encephaloc...	ORPHA:1528
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Hearing impairment, Failure to thrive, Cholestasis, Avascular ...	OMIM:619377
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Immunodeficiency 18	Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De...	OMIM:615615
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Biventricular h...	OMIM:616462
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Thoraci...	OMIM:613702
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Abnormality of the sphenoid sinus, Micrognathia, Genu valgum, Mitral valve ...	ORPHA:363700
Fetal Gaucher Disease	Arthrogryposis multiplex congenita, Low-set, posteriorly rotated ears, Abnormality of the spleen,...	ORPHA:85212
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Arnold-Chiari Malformation Type I	Progressive cerebellar ataxia, Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of ...	ORPHA:268882
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Urinary incontinence, Broad-based gai...	ORPHA:206448
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Delayed cranial suture closure, Lymphopenia, Micrognathia, Cryptorchidism, Atrial s...	OMIM:620005
Nablus Mask-Like Facial Syndrome	Low-set ears, Joint contracture of the hand, Secondary microcephaly, Narrow mouth, Cryptorchidism...	OMIM:608156
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Absent tragus, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of...	ORPHA:79113
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Mixed Connective Tissue Disease	Nephropathy, Joint stiffness, Hemolytic anemia, Leukopenia, Splenomegaly, Joint swelling, Lymphad...	ORPHA:809
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Large fleshy ears, Narrow mouth, Urinary bladder wall hyper...	ORPHA:280633
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia,...	ORPHA:169090
Stromme Syndrome	Wide nasal bridge, Accessory spleen, Low-set ears, Retinal vascular tortuosity, Bilateral renal h...	OMIM:243605
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Sarcoidosis	Abnormal lymph node morphology, Abnormal reproductive system morphology, Weight loss, Hepatomegal...	ORPHA:797
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain	ORPHA:56425
Aicardi-Goutieres Syndrome 1	Spasticity, Cardiomyopathy, Inability to walk, Chronic CSF lymphocytosis, Splenomegaly, Self-muti...	OMIM:225750
Autosomal Dominant Optic Atrophy Plus Syndrome	Spastic paraplegia, Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Abnormal ret...	ORPHA:1215
Kabuki Syndrome 1	Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Lateral ven...	OMIM:147920
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Low-set ears, Aortic valve stenosis, Widely spaced teeth, Mild hearing impairment, Micrognathia, ...	ORPHA:459061
Opitz-Kaveggia Syndrome	Spasticity, Joint contracture of the hand, Micrognathia, Cryptorchidism, Sensorineural hearing im...	OMIM:305450
Recon Progeroid Syndrome	Dental crowding, Prominence of the premaxilla, Joint hypermobility, Smooth philtrum, Anemia, Atta...	OMIM:620370
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Obesity, Hyperactivity, Crowded maxillary incisors, Mandibular prognathia	ORPHA:397973
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Failure to thrive, Splenomegaly, Hepatic steatosis, Elevated circulating creatine kin...	OMIM:613327
Atelosteogenesis, Type I	Low-set ears, Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Vertebral hypoplasia, ...	OMIM:108720
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption...	ORPHA:50814
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Depression, Oral leukoplakia, Ascites, Leukocytosis, Splenomegaly,...	ORPHA:342
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Flexion contractu...	OMIM:601812
Myhre Syndrome	Craniofacial hyperostosis, Hearing impairment, Narrow mouth, Cryptorchidism, Hypospadias, Epispad...	ORPHA:2588
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dent...	OMIM:257850
Alexander Disease	Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Hydrocephalus, Ataxia,...	OMIM:203450
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:268200
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Rigidity, Myoglobinuria, H...	OMIM:145600
Muscle-Eye-Brain Disease	Optic atrophy, Hemiplegia/hemiparesis, Elevated circulating creatine kinase concentration, Gait d...	ORPHA:588
Flat Face-Microstomia-Ear Anomaly Syndrome	Wide nasal bridge, High, narrow palate, Abnormal oral mucosa morphology, Aplasia/Hypoplasia of th...	ORPHA:1968
Cousin Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Dislocation of the femoral head,...	OMIM:260660
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Joint stiffness, Leukopenia, Follicular hyperplasia, Anemia, Thro...	OMIM:615934
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:177735
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Wide nasal bridge, Abnormality of the dentition, Small scrotum, Carious teeth, Hypoplasia of the ...	ORPHA:3253
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Cardiomegaly, Enamel hypoplasia, Macrotia	OMIM:613576
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Patellar aplasia, Cryptorchidism, Calcinosis, Neutropenia, Leukem...	ORPHA:221008
6P22 Microdeletion Syndrome	Low-set ears, Hearing impairment, Abnormal palate morphology, Hydronephrosis, Short neck, Hydroce...	ORPHA:251046
Familial Hypoaldosteronism	Failure to thrive, Hyponatremia, Lethargy, Decreased urinary potassium, Orthostatic hypotension, ...	ORPHA:427
Aicardi-Goutieres Syndrome 7	Tetraparesis, Pancytopenia, Hepatic steatosis, Weight loss, Tetraplegia, Hepatomegaly, Nephrotic ...	OMIM:615846
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:600649
Immune Dysregulation, Autoimmunity, And Autoinflammation	Gingival bleeding, Abnormal circulating C-reactive protein concentration, Cervical lymphadenopath...	OMIM:620514
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Hepatosplenomegaly, Micrognathia, Narrow mouth, Cryptorchidi...	ORPHA:96334
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili...	OMIM:301068
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Multicystic kidney dysplasia, Natal tooth, Micrognat...	OMIM:300373
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal ...	OMIM:613458
Familial Mediterranean Fever	Neutrophilia, Renal amyloidosis, Aphthous ulcer, Leukocytosis, Splenomegaly, Stage 5 chronic kidn...	OMIM:249100
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Long philtrum, Thin upper lip vermilion, Primary microcephal...	OMIM:617523
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Elevated circulating creatine kinase concentration, Retinal detachment, Hydrocephalus, Microphtha...	OMIM:615181
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatic steatosis, Hypercholesterolemia, Hypertri...	OMIM:612526
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Short neck, Absent earlobe...	OMIM:264090
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Low-set ears, Osteopenia, Hepatic fibrosis, Pancreatic hypoplasia, Long philtrum, Hepatitis, Chol...	OMIM:610199
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Pseudopapilledema, Short neck, Meningocele, Facial p...	ORPHA:3456
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Spasticity, Ventriculomegaly, Facial-lingual fasciculations, Thick upper lip vermi...	OMIM:617281
Sandhoff Disease, Infantile Form	Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Myoclonus, Mitral valve prolapse, ...	ORPHA:309155
Kleeblattschaedel	Craniosynostosis, Elbow ankylosis, Hydrocephalus	OMIM:148800
Aregenerative Anemia	Bone marrow hypocellularity, Depression, Pancytopenia, Decreased proportion of CD4-positive helpe...	ORPHA:101096
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae	ORPHA:1436
Noonan Syndrome 14	High, narrow palate, Low-set ears, Lateral ventricle dilatation, Long philtrum, Hypertrophic card...	OMIM:619745
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Hyperlipidemia, H...	OMIM:232200
Long-Olsen-Distelmaier Syndrome	Low-set ears, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Failure t...	OMIM:620609
Primrose Syndrome	Hearing impairment, Genu valgum, Narrow mouth, Cryptorchidism, Hip contracture, Torus palatinus, ...	OMIM:259050
Tetanus	Elevated urinary norepinephrine level, Stiff neck, Autonomic bladder dysfunction, Tremor, Rigidit...	ORPHA:3299
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Ovarian cys...	OMIM:188400
Jaberi-Elahi Syndrome	Low-set ears, Optic atrophy, Broad-based gait, Kyphosis, Failure to thrive, Inability to walk, Jo...	OMIM:617988
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Pancytopenia, Emotional lability, Hematuria, Neutrophilia, Hepatomegaly, Jaund...	ORPHA:99827
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis	ORPHA:2776
Triosephosphate Isomerase Deficiency	Normocytic anemia, Spasticity, Cholelithiasis, Failure to thrive, Splenomegaly, Tremor, Macrocyti...	OMIM:615512
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:143860
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Zimmermann-Laband Syndrome 1	Low-set ears, Hearing impairment, Hepatomegaly, High palate, Gingival fibromatosis, Hyperextensib...	OMIM:135500
Adams-Oliver Syndrome 2	Low-set ears, Optic atrophy, Lateral ventricle dilatation, Micrognathia, Protruding ear, Microcep...	OMIM:614219
Gabriele-De Vries Syndrome	Low-set ears, Lateral ventricle dilatation, Micrognathia, Cryptorchidism, Patellar dislocation, F...	OMIM:617557
Ear-Patella-Short Stature Syndrome	Low-set ears, Clitoral hypertrophy, Elbow dislocation, Hearing impairment, Atresia of the externa...	ORPHA:2554
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Ataxia, Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, Sens...	OMIM:616084
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy	ORPHA:50251
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, ...	OMIM:619573
Wars2-Related Combined Oxidative Phosphorylation Defect	Wide nasal bridge, Low-set ears, Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, ...	ORPHA:572798
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Arthritis, Hepatomegaly,...	OMIM:616100
Elsahy-Waters Syndrome	Low-set ears, High palate, Increased cup-to-disc ratio, Hypospadias, Hypoplasia of the maxilla, I...	OMIM:211380
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Failure to thrive in infancy, Hepatosplenom...	OMIM:606367
Fibrodysplasia Ossificans Progressiva	Conductive hearing impairment, Small cervical vertebral bodies, Widely spaced teeth, Ectopic ossi...	OMIM:135100
Dubowitz Syndrome	Low-set ears, Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Micrognathia, Cryptor...	OMIM:223370
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Hypogonadism, External ge...	ORPHA:2250
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spastic paraplegia, Optic atrophy, Inability to walk, Ankle clonus, Babinski sign, Exaggerated st...	OMIM:609541
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Sensorineural hearing impairment...	ORPHA:444077
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Hearing impairment, Everted lower lip vermilion, High palate, Motor stereotypy, Sel...	OMIM:620494
Behçet Disease	Oral ulcer, Hemiparesis, Abnormal pyramidal sign, Weight loss, Anorexia, Ataxia, Endocarditis, Re...	ORPHA:117
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Horseshoe kidney, Cryptorchidism, Malar flattening, Ventricular septal defect, ...	OMIM:218350
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Elevated...	OMIM:260920
Biemond Syndrome Type 2	Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Hydrocephalus, Microphthalmia, Hypospadias	ORPHA:141333
Marshall Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zyg...	ORPHA:560
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype...	OMIM:201475
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Sneddon Syndrome	Hemiplegia, Lymphopenia, Tremor, Bicuspid aortic valve, Facial palsy	OMIM:182410
Fucosidosis	Abnormality of the dentition, Spasticity, Kyphosis, Hearing impairment, Failure to thrive, Abnorm...	ORPHA:349
Alkaptonuria	Aortic valve calcification, Elevated urinary homogentisic acid, Limited hip movement, Decreased g...	OMIM:203500
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Congenital contracture, Thymus hyperplasia, EEG with burst suppression, Micrognathia, Hypsarrhythmia	OMIM:619036
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Occipital encephalocele, Atresia of the external auditory canal, Un...	OMIM:164210
Trisomy 8P	Abnormal middle ear morphology, Cryptorchidism, Short neck, Dysplastic aortic valve, Short nose, ...	ORPHA:264450
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hem...	OMIM:608184
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Recurrent otitis media, Flexion contracture of finger, Hepatomegaly, Elevated ...	OMIM:256040
Peters-Plus Syndrome	Low-set ears, Hearing impairment, Micrognathia, Short lingual frenulum, Cryptorchidism, Limited e...	OMIM:261540
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ...	ORPHA:217085
East Syndrome	Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ...	ORPHA:199343
Ethylene Glycol Poisoning	Myoclonus, Hypocalcemia, Renal insufficiency, Renal tubular dysfunction, Hematuria, Euphoria, Fac...	ORPHA:31826
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Spasticity, Intraalveolar phospholipid accumulation, Hepatitis...	OMIM:620565
Prolidase Deficiency	Failure to thrive, Micrognathia, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombo...	OMIM:170100
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Periodic hypokalemic paresis, Urinary retention, Hypomagnesemia, Obesity, T...	ORPHA:79102
Attrv30M Amyloidosis	Nephropathy, Cardiomyopathy, Vitreous floaters, Cardiomegaly, Weight loss, Abnormal autonomic ner...	ORPHA:85447
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Failure to thrive	OMIM:264350
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Genu valgum, Hepatic stea...	ORPHA:99413
Cleidocranial Dysplasia	Carious teeth, Hearing impairment, Open bite, Micrognathia, Genu valgum, Decreased skull ossifica...	ORPHA:1452
Mosaic Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Genu valgum, Hepatic stea...	ORPHA:99228
Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Genu valgum, Hepatic stea...	ORPHA:99226
Turner Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Genu valgum, Hepatic stea...	ORPHA:881
Cernunnos-Xlf Deficiency	Lymphopenia, Microcephaly, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Failure to thrive, Weight loss, Hepatomegaly, Mediastinal lymphadenopathy, ...	ORPHA:79128
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Ventriculomegaly, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nip...	ORPHA:1812
Frontometaphyseal Dysplasia 2	Low-set ears, Cryptorchidism, Hip contracture, Sensorineural hearing impairment, Bicuspid aortic ...	OMIM:617137
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemipares...	ORPHA:96
Alkuraya-Kucinskas Syndrome	Low-set ears, Small scrotum, Ventriculomegaly, Pericardial effusion, Micrognathia, Posteriorly ro...	OMIM:617822
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hydrocephalus, Anemia, Pericarditis	ORPHA:163596
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosi...	OMIM:602557
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hearing impairment, Fasciculations, Cryptorchidism, Tremor, Patent foramen ovale, Hydronephrosis,...	OMIM:620327
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg...	OMIM:112240
Lymphatic Filariasis	Urethral obstruction, Ankle swelling, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morpholo...	ORPHA:2035
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Atrial septa...	OMIM:620663
Listeriosis	Hearing impairment, Hypoglycorrhachia, Abscess, Hemiparesis, Ataxia, Jaundice, Endocarditis, Acut...	ORPHA:533
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Hurler-Scheie Syndrome	Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the distal interphala...	OMIM:607015
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Delayed cranial suture closure, Cryptorchidism, Elbow ankylosis, Hy...	ORPHA:2658
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal bridge, Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Hydrocephalus, Wide...	OMIM:616521
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Mania, Hypoproteinemia, ...	ORPHA:247585
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Tubulointerstitial nephritis, Hepatomega...	ORPHA:228308
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ...	ORPHA:217093
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Hemiplegia, Joint hypermobility, Gait disturbance, Hydrocephalus, Shoulder d...	ORPHA:2181
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Abnormal dental enamel morphology, Cholestasis, Portal hypertension, Splenomegaly, Oligodontia, H...	ORPHA:59303
Coach Syndrome 2	Hepatic fibrosis, Portal fibrosis, Chorioretinal coloboma, Hyperechogenic kidneys, Elevated circu...	OMIM:619111
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Abnormality of skin pigmentation	OMIM:240200
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymph...	OMIM:619281
Orofaciodigital Syndrome I	Low-set ears, Carious teeth, Hearing impairment, Ankyloglossia, Ovarian cyst, High palate, Polycy...	OMIM:311200
Hyperlysinemia	Hypoplasia of the antihelix, Opisthotonus, Spastic tetraparesis, High palate, Dysphagia, Argininu...	ORPHA:2203
Hereditary Cryohydrocytosis With Reduced Stomatin	Spastic paraplegia, Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Hepatospleno...	ORPHA:168577
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss, Ab...	ORPHA:33276
47,Xyy Syndrome	Low-set ears, Varicocele, Azoospermia, Cryptorchidism, Malar flattening, Impulsivity, Attention d...	ORPHA:8
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Cryptorchidism, Hydrocephalus, High palate, Facial palsy, Flexion contractur...	OMIM:310400
Dextrocardia	Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal heart...	ORPHA:1666
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Recurrent otitis media, Protruding tongue, Neutrophilia, Hepatomegaly, Ataxia,...	ORPHA:99843
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Elevated circulating creatine kinase conc...	ORPHA:79240
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy, Arthritis	OMIM:617772
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic atrophy, Lateral ventricle dilatation, Optic nerve com...	OMIM:612301
Selective Igm Deficiency	Rheumatoid arthritis, Lymphadenitis, Decreased proportion of transitional B cells, Cutaneous absc...	ORPHA:331235
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Congenital giant melanocytic nevus, Open mouth, Prominence of the premaxilla, Deep...	OMIM:137550
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Hearing impairment, Open bite, Micrognathia, Ataxia, Tarsal synosto...	ORPHA:2750
Infantile Liver Failure Syndrome 3	Platyspondyly, Hepatic bridging fibrosis, Cholestasis, Abnormal acetabulum morphology, Hyperammon...	OMIM:618641
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Orofacial cleft, Hydrocephalus, Microphthalmia, Retina...	ORPHA:324416
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr...	OMIM:616294
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back ...	ORPHA:86843
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hearing impairment, Osteomalacia, Sensorineural hearing impairment, Panc...	ORPHA:51608
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Hearing impairment, Ataxia, Bradykinesia, Dysphagia, Depression, Goiter, Abnormal...	ORPHA:254892
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Absent external genitalia, Supernumerary vertebrae, Aplasia of the vagina, Hydro...	OMIM:271520
Refsum Disease	Cardiomyopathy, Renal insufficiency, Retinopathy, Splenomegaly, Hemiplegia/hemiparesis, Abnormali...	ORPHA:773
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop...	ORPHA:859
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Obesity, Emotional lability, Biconcave vertebr...	OMIM:219090
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Low-set ears, Micrognathia, Hydrocephalus, Microphthalmia, Short philtrum, Wide mo...	ORPHA:163966
Meier-Gorlin Syndrome 3	Low-set ears, Small scrotum, Clitoral hypertrophy, Micrognathia, Narrow mouth, Patellar aplasia, ...	OMIM:613803
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder, Cryptorchidism, Frontal encephalocele	ORPHA:261102
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Spinal dysraphism, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Mic...	ORPHA:1908
Peho Syndrome	Optic atrophy, Ventriculomegaly, Limitation of joint mobility, Macrotia, Abnormal upper lip morph...	ORPHA:2836
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Neurofibromatosis Type 1	Hearing impairment, Chorioretinal coloboma, Hypopigmented skin patches, Genu valgum, Cryptorchidi...	ORPHA:636
Tangier Disease	Facial diplegia, Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II con...	OMIM:205400
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Osteopenia, Long philtrum, Abnormal heart valve morphology, Large for gest...	ORPHA:363705
Fontaine Progeroid Syndrome	Low-set ears, Small scrotum, Micrognathia, Narrow mouth, Protruding tongue, Cryptorchidism, Bicus...	OMIM:612289
Tetrasomy 9P	Abnormal earlobe morphology, Micrognathia, Glue ear, Cryptorchidism, Absent gallbladder, Abnormal...	ORPHA:3310
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal ...	OMIM:619522
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly, Hearing impairment, Elevated circulating creatine kinase concentration	OMIM:618838
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Cryptorchidism, Tremor, Hydronephrosis, Oculomotor apraxia, Abnormal pyramidal si...	OMIM:618060
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Micrognathia, Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Thakker-Donnai Syndrome	Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Ventricular septal defect, Cervic...	ORPHA:1780
Trichohepatoneurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Increased serum bile acid concentration, Decreased body wei...	OMIM:618268
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Osteopenia, Spasticity, Optic atrophy, Downturned corners of mouth, Malar flattenin...	OMIM:618590
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati...	OMIM:606159
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Ventricular se...	ORPHA:163979
Joubert Syndrome 2	Ataxia, Low-set ears, Nephronophthisis, Enlarged fossa interpeduncularis, Failure to thrive, Chor...	OMIM:608091
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Ventricular septal defect, Enlarged vest...	OMIM:157800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Retinal dysplasia, Hydrocephalus, Microphthalmia	OMIM:614830
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Q Fever	Granuloma, Hepatitis, Abnormal heart valve morphology, Osteomyelitis, Hepatosplenomegaly, Abnorma...	ORPHA:781
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Pituitary adenoma, Increased circulating prolactin concentra...	ORPHA:97289
Cranioectodermal Dysplasia 2	Low-set ears, Cholestasis, Micrognathia, Hyperbilirubinemia, Short neck, Everted lower lip vermil...	OMIM:613610
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con...	ORPHA:199306
Alpha-Thalassemia	Cholelithiasis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Microcytic anemia, Mala...	ORPHA:846
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Polydipsia, Failure to thrive, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Hypo...	OMIM:239200
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Spasticity, Secondary microcephaly, Abnormality of retinal pigmentation, Babinski sign, Bicuspid ...	ORPHA:397951
Camurati-Engelmann Disease	Bone marrow hypocellularity, Carious teeth, Hearing impairment, Cranial nerve compression, Slende...	OMIM:131300
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Absent extern...	ORPHA:1299
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal...	OMIM:130650
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, ...	ORPHA:99931
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Carious teeth, Abnormal circulating se...	ORPHA:89842
Distal 22Q11.2 Microduplication Syndrome	Low-set ears, Abnormal helix morphology, Micrognathia, Abnormal antihelix morphology, Cryptorchid...	ORPHA:261337
Osteoglophonic Dysplasia	Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Low-set ears, Hypospadias, Delayed eruption...	OMIM:166250
Joubert Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Situs inversus totalis, Encephalocele, Tremo...	ORPHA:475
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Oral leukoplakia, Increased mean cor...	OMIM:127550
Typhoid	Splenomegaly, Tremor, Lethargy, Hypertonia, Ataxia, Hepatomegaly	ORPHA:99745
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Idiopathic Hypereosinophilic Syndrome	Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ...	ORPHA:3260
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorl...	ORPHA:391474
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis...	ORPHA:276280
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Congenital hip dislocation, Failure to thrive, Long philtrum, Malar flattening, Joint...	OMIM:612940
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Low-set ears, Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic...	OMIM:613603
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy, Micro...	OMIM:601794
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Increased circulating IgG4 level, Increased circulating antibody...	ORPHA:449432
Tetrasomy 15Q26	Low-set ears, Microretrognathia, Cupped ear, Horseshoe kidney, Kyphoscoliosis, Hydronephrosis, At...	OMIM:614846
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Bicornuate uterus, Hydrocephalus, Cleft palate	OMIM:258320
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Testicular atrophy, D...	OMIM:313200
Primary Sjögren Syndrome	Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, Glomerulonep...	ORPHA:289390
Functioning Gonadotropic Adenoma	Osteopenia, Pituitary gonadotropic cell adenoma, Delayed skeletal maturation, Decreased response ...	ORPHA:91348
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Spasticity, Hearing impairment, Oral-pharyngeal dysphagia, Short neck, Prominent co...	OMIM:300966
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Hyperpigmentation of the skin, Anorexia, Ane...	OMIM:175500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Retinopath...	ORPHA:251380
Aspartylglucosaminuria	Abnormal vertebral morphology, Carious teeth, Beaking of vertebral bodies, Hepatomegaly, Anterior...	ORPHA:93
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Carious teeth, Natal tooth, Atresia of the external auditory canal, Bilateral condu...	OMIM:620186
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Weight loss, Anorexia, Elevated circulating C-reactive protein concen...	ORPHA:1302
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Renal agenesis, Abnormal vagina morphology, Abnormality of the ovary, O...	ORPHA:247768
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Meier-Gorlin Syndrome 5	Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Delayed skeletal matur...	OMIM:613805
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Spasticity, Hearing impairment, Lateral ventricle dilatation, Absent gallbladder, A...	ORPHA:500150
Tetragametic Chimerism	Clitoral hypertrophy, Hypopigmented skin patches, Bifid scrotum, Abnormality of the ovary, Blood ...	ORPHA:199310
Meier-Gorlin Syndrome 4	Genu recurvatum, Low-set ears, Hypoplasia of the maxilla, Failure to thrive, Delayed skeletal mat...	OMIM:613804
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Low-set ears, Ventriculomegaly, Congenital contracture, Retrognathia, Long p...	OMIM:620156
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Ovarian cyst, Decreased circulating renin level, ...	ORPHA:90793
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Increased CSF citrulline concentration, Abnormal CSF pyruvate family...	ORPHA:3008
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Sensorineural hearing impairment, Ataxia, Hepatomegaly, Optic ...	OMIM:252010
Glutaric Acidemia I	Glutaric aciduria, Elevated circulating glutaric acid concentration, Failure to thrive, Ketonuria...	OMIM:231670
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Aortic valve stenosis, Carious teeth, Natal tooth, Secondary microcephaly, Microgna...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Aortic valve stenosis, Carious teeth, Natal tooth, Secondary microcephaly, Microgna...	ORPHA:353277
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Narrow mouth, Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Abnor...	ORPHA:83473
Distal Renal Tubular Acidosis	Osteomalacia, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal potassium was...	ORPHA:18
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Kyphosis, Abnormal form of the vertebral bodies, Conduc...	ORPHA:3042
Cantú Syndrome	Wide nasal bridge, Platyspondyly, Long philtrum, Delayed skeletal maturation, Hypertrophic cardio...	ORPHA:1517
Lipodystrophy, Congenital Generalized, Type 2	Acute pancreatitis, Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Spleno...	OMIM:269700
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Emotional lability, Irritability, Dec...	OMIM:608643
Sotos Syndrome	Abnormal vertebral morphology, Hearing impairment, Cryptorchidism, Hip contracture, Ventricular s...	ORPHA:821
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Depression, Kyphosis, Generalized dystonia, Inability to walk, Multiple joint cont...	OMIM:128100
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Recurrent otitis media,...	OMIM:614921
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Depression, Hearing impairment, Inability to ...	OMIM:620114
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Low-set ears, Elbow dislocation, Lateral ventricle dilatation, H...	OMIM:210710
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Wide nasal bridge, Low-set ears, Hypoplasia of the zygomatic bone, Genu valgum, Cryptorchidism, J...	ORPHA:1778
Scheie Syndrome	Abnormal nerve conduction velocity, Spastic paraparesis, Limitation of joint mobility, Cerebral p...	ORPHA:93474
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Spastic paraplegia, Ventricular hypertrophy, Polydipsia, Cerebral palsy, Adrenal hyperplasia, Ven...	ORPHA:369929
Rhombencephalosynapsis	Ventriculomegaly, Microretrognathia, Abnormality of the uterus, Low-set, posteriorly rotated ears...	ORPHA:59315
Campomelic Dysplasia	Delayed epiphyseal ossification, Low-set ears, Carious teeth, Hypoplastic cervical vertebrae, Hea...	OMIM:114290
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Renal dysplasia, Hamartoma of tongue, Acetabular spurs, Ambiguous genitalia, Mic...	OMIM:613091
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Renal insufficiency, Hyponatre...	ORPHA:247353
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Wide nasal bridge, Low-set ears, Microretrognathia, Small for gestational age, Failure to thrive,...	OMIM:614052
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Hypoplasia of the zygomatic bone, Delayed skeletal maturation, Long philtrum, Shor...	OMIM:614800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Depression, Cardiomyopathy, Limb ataxia, Gait ataxia, 3-Methylglutaconic aciduria,...	OMIM:619259
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clitoral hypertrophy, Hyperplasia of the maxilla, Micrognathia, Enlarged labia mino...	OMIM:268300
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Limb ...	ORPHA:51636
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Inability to walk, Speech apraxia, Chorea, Hepatic steatosis, Tremor, Elevate...	OMIM:615356
Aymé-Gripp Syndrome	Low-set ears, Limitation of joint mobility, Delayed cranial suture closure, Narrow mouth, Cryptor...	ORPHA:1272
Semilobar Holoprosencephaly	Spasticity, Limb dystonia, Sensorineural hearing impairment, High palate, Dysphagia, Hip dislocat...	ORPHA:220386
Alobar Holoprosencephaly	Spasticity, Limb dystonia, Sensorineural hearing impairment, High palate, Dysphagia, Hip dislocat...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Limb dystonia, Sensorineural hearing impairment, High palate, Dysphagia, Hip dislocat...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Limb dystonia, Sensorineural hearing impairment, High palate, Dysphagia, Hip dislocat...	ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad-based gait, Abnormality of primary teeth, Tented upper lip vermilion, Th...	ORPHA:438216
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:170500
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Spasticity, Osteopenia, Optic atrophy, Oral leukoplakia, Pathologic ...	OMIM:612199
Satoyoshi Syndrome	Abnormality of the uterus, Abnormal joint morphology, Abnormality of the ovary, Abnormality of th...	ORPHA:3130
Arachnoid Cyst	Tetraparesis, Lower limb pain, Encephalocele, Hemiparesis, Paraparesis, Urinary incontinence, Hol...	ORPHA:2356
Immunodeficiency 13	Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positiv...	OMIM:615518
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease...	OMIM:604387
Autoimmune Hepatitis	Depression, Viral hepatitis, Increased total bilirubin, Ascites, Vitiligo, Splenomegaly, Sclerosi...	ORPHA:2137
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Hypoplasia of the premaxilla, Abnormal localization of kidney, Low-set, posteriorly ...	ORPHA:2166
Icf Syndrome	Low-set ears, Lymphopenia, Micrognathia, Communicating hydrocephalus, Protruding tongue, Anemia, ...	ORPHA:2268
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:145260
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Methylmalonic Aciduria, Cbla Type	Ketonuria, Failure to thrive, Methylmalonic aciduria, Pancytopenia, Hyperglycinemia, Hyperammonem...	OMIM:251100
Tetrasomy 5P	Wide nasal bridge, Low-set ears, Failure to thrive, Long philtrum, Micrognathia, Short neck, Hydr...	ORPHA:3309
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Hilar lymph node enlargement, Recurrent otitis media, Cholestasis, Leukocytosi...	OMIM:620233
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Dilated fourth ventricle, Situs inversus totalis, Chronic ...	OMIM:620642
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Delayed skeletal maturation, Delayed cranial suture closure, Bi...	ORPHA:93325
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Delayed...	OMIM:222700
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc...	OMIM:129400
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism, Protruding ear, Smo...	ORPHA:1920
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Spasticity, Secondary microcephaly, Babinski sign, Microcephaly, Abnormal ...	OMIM:615599
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Spasticity, Unbalanced atrioventricular canal defect, Dilatation of the renal pelvi...	OMIM:619534
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Calcinosis, Neutropenia, Leuke...	ORPHA:2909
Joubert Syndrome With Renal Defect	Nephropathy, Low-set, posteriorly rotated ears, Renal insufficiency, Encephalocele, Tremor, Agang...	ORPHA:220497
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conical tooth, Atresia of the external a...	OMIM:106260
Yunis-Varon Syndrome	Low-set ears, Clitoral hypertrophy, Hearing impairment, Broad secondary alveolar ridge, Micrognat...	ORPHA:3472
Dandy-Walker Syndrome	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Acro-Renal-Mandibular Syndrome	Kyphosis, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Uterus didelphys, L...	ORPHA:958
Niemann-Pick Disease Type C	Hearing impairment, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal p...	ORPHA:646
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Mucolipidosis Type Ii	Limitation of joint mobility, Hepatosplenomegaly, Hip contracture, Sensorineural hearing impairme...	ORPHA:576
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Ventricular septal d...	OMIM:243150
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Ovarian neoplasm	ORPHA:2221
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Lethargy, Addictive alcohol use, Neutrophilia, Elevated circulating C-r...	ORPHA:36238
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Velopharyngeal insufficiency, Atresia of the external auditory canal, Micrognathia,...	OMIM:154400
Central Neurocytoma	Depression, Abnormal lateral ventricle morphology, Tinnitus, Babinski sign, Lethargy, Hydrocephal...	ORPHA:73256
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Niemann-Pick Disease, Type C1	Spasticity, Fetal ascites, Cataplexy, Sea-blue histiocytosis, Gait ataxia, Splenomegaly, Prolonge...	OMIM:257220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Ventriculomegaly, Retrognathia, Encephalocele, Elevated circulating creatine kinase...	OMIM:614643
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Multiple joint contractures, A...	ORPHA:320406
Bartsocas-Papas Syndrome 1	Low-set ears, Micrognathia, Short neck, Hypoplastic labia majora, Microphthalmia, Ectopic kidney,...	OMIM:263650
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Pigmentary retinopathy, Depressi...	ORPHA:79095
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Splenomegaly, Hepat...	OMIM:608594
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Ventriculomegaly, Abnormal circulating ceruloplasmin c...	OMIM:620306
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Neurodegeneration With Brain Iron Accumulation 1	Spasticity, Acanthocytosis, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign, At...	OMIM:234200
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing i...	ORPHA:245
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Tremor, Myoglobinuria, Ataxia, Hemolyti...	ORPHA:713
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Weight loss, Renal salt wasting, Hyperkalemia, Decreased testicular size, H...	ORPHA:90794
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Adrenal hyperplasia, Hyponatremia, M...	OMIM:201810
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Failure to thrive, Hypocholesterolemia, ...	OMIM:607765
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Autoimmune hemolytic anemia, Optic neuritis, Lymphadenopathy, Neutropenia in presen...	ORPHA:436159
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Lateral ventricle dilatation, Cryptorchidism, Sensorineural hea...	OMIM:607872
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Ventriculomegaly, Hearing impairment, Hypopigmented skin patches, Cry...	ORPHA:1647
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 5th finger, Con...	OMIM:184460
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, Short phi...	OMIM:613776
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Humeroradial synostosis, Ma...	OMIM:207410
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Poikilocytosis, Unconjugated hyperbilirubinemia, Osteopenia, Hypopigme...	ORPHA:79277
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Cerebral palsy, Biventricular hypertrophy, Patent foramen ovale, Decreased circulatin...	OMIM:615474
Chronic Visceral Acid Sphingomyelinase Deficiency	Cherry red spot of the macula, Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis,...	ORPHA:77293
Dpagt1-Cdg	Hearing impairment, Hypsarrhythmia, Rod-cone dystrophy, EEG with generalized slow activity, Hepat...	ORPHA:86309
Amelocerebrohypohidrotic Syndrome	Spasticity, Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogene...	ORPHA:1946
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial...	ORPHA:57777
Corpus Callosum, Partial Agenesis Of, X-Linked	Spasticity, Ventriculomegaly, Dislocated radial head, Aganglionic megacolon, Microcephaly, Hydroc...	OMIM:304100
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Hypopigmented skin patches, Carpal synostosis, Mal...	ORPHA:53271
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Optic atrophy, Natal tooth, Atresia of the external auditory canal, H...	OMIM:123790
Pachydermoperiostosis	Limitation of joint mobility, Cerebral palsy, Osteolysis, Osteomyelitis, Abnormal cortical bone m...	ORPHA:2796
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Long philtrum, Secondary microcephaly, Gait ataxia, Tented upper lip vermilio...	OMIM:618056
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Oral ulcer, Joint contracture, Neutropenia, Elevated circulating C-reactive protein ...	OMIM:620443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Spasticity, Large fleshy ears, Micrognathia, Open mouth, Atrial septal defect, High...	OMIM:614080
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Cupped ear, Decreased body weight, Short philtrum, Mandibular prognath...	ORPHA:93945
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertrophic cardiomyopathy, Micrognathia, Splenomegaly, Hypertriglyceridemia, Polycystic ovaries...	ORPHA:280365
Cryptococcosis	Abnormal optic nerve morphology, Osteomyelitis, Abnormal cranial nerve morphology, Peritonitis, C...	ORPHA:1546
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Clitoral hypertrophy, Ulnar radial head dis...	OMIM:264270
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Increased urinary 11-deoxycorticosterone level, Clitoral hypertrophy, Long pe...	ORPHA:90795
Sepsis In Premature Infants	Oliguria, Leukocytosis, Splenomegaly, Reversible renal failure, Decreased body weight, Hepatomega...	ORPHA:90051
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Generalized aminoa...	OMIM:251880
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Hypophosphatemic rickets, Tremor, Pancreatic islet-cell hy...	ORPHA:263455
Immunodeficiency 31C	Osteopenia, Lymphopenia, Osteomyelitis, Splenomegaly, Autoimmune hemolytic anemia, Weight loss, L...	OMIM:614162
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Hyperammonemia, Hepatic steatosis, Elevated circulating creatin...	OMIM:255120
Lujo Hemorrhagic Fever	Oliguria, Resting tremor, Stiff neck, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency,...	ORPHA:319213
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Eosinophilia	ORPHA:449427
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Increased urinary cortisol level, Lymphopenia, Adrenal hyperplasi...	ORPHA:99889
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Ventriculomegaly, Vertebral wedging, Hyperechogenic kidneys, Micrognathia, Decreas...	OMIM:617866
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Conductive hearing impairment, Lobulated tongue, Micrognathia, Malar f...	OMIM:252100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Low-set ears, Decreased skull ossification, Hydrocephalus, Microphthalmia, Short nose	OMIM:300863
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Decreased circulating renin...	ORPHA:320
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Microcephaly, Renal cyst, Atrial septal defect, Hydroce...	OMIM:611134
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Myocarditis	ORPHA:3386
Parkinson Disease 14, Autosomal Recessive	Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation, Parkinsonism, Bradyk...	OMIM:612953
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Congenital contracture, Cleft upper lip, Encephalocele, Elevated circulating cr...	OMIM:613150
Axenfeld-Rieger Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Aplasia/Hypoplasia of the iris,...	ORPHA:782
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Cryptorchidism, Sensorineural ...	OMIM:619841
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Craniosynostosis, Accelerated skeletal maturation, Hydrocephalus	ORPHA:380
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Renal hypoplasia, Abnormality of the vertebral column, Abnormal he...	OMIM:276950
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hearing impairment, Failure to thrive, Oligosacchariduria, Difficulty walking, Inability to walk,...	ORPHA:365
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Hearing impairment, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicat...	OMIM:604292
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Urinary...	OMIM:182940
Psoriasis 14, Pustular	Polyarticular arthritis, Furrowed tongue, Leukocytosis, Oligoarthritis, Geographic tongue, Neutro...	OMIM:614204
Lissencephaly 5	Spastic paraplegia, Optic atrophy, Occipital encephalocele, Hearing impairment, Hydrocephalus	OMIM:615191
Timothy Syndrome	Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Thin upper li...	OMIM:601005
Systemic Lupus Erythematosus	Depression, Anorexia, Chorea, Hemolytic anemia, Leukopenia, Retinopathy, Oral ulcer, Hematuria, P...	ORPHA:536
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Kallmann Syndrome	Renal agenesis, Delayed skeletal maturation, Tooth agenesis, Anterior hypopituitarism, Breast hyp...	ORPHA:478
Neutral Lipid Storage Disease With Myopathy	Hearing impairment, Cardiomyopathy, Fasciculations, Difficulty walking, Chronic pancreatitis, Spl...	OMIM:610717
Dyskeratosis Congenita, X-Linked	Carious teeth, Pancytopenia, Cryptorchidism, Acute myeloid leukemia, Cirrhosis, Ataxia, Hypospadi...	OMIM:305000
Pfeiffer Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding, Humeroradial synostosis, El...	OMIM:101600
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, C...	OMIM:619142
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Lymphopenia, Recurrent aphthous stomatitis, Autoimmune hemolytic a...	OMIM:614868
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin...	ORPHA:466650
Niemann-Pick Disease, Type C2	Spasticity, Fetal ascites, Cataplexy, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Motor s...	OMIM:607625
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Decreased plas...	ORPHA:157
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, Abnormal...	OMIM:614298
Anaplastic Thyroid Carcinoma	Goiter, Weight loss, Vocal cord paralysis, Lymphadenopathy, Nodular goiter, Dysphagia	ORPHA:142
Blau Syndrome	Nephropathy, Limitation of joint mobility, Abnormal cranial nerve morphology, Abnormal choroid mo...	ORPHA:90340
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Ascites, EEG with burst suppression, Biventricular hypertrophy, Hypertrophic card...	OMIM:261740
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Failure to thri...	OMIM:300972
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe...	ORPHA:99750
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypoplasia of the zygomatic bone, Hypopigmented skin patches, Bifid scrotum, Joint stiffness, Gen...	ORPHA:1295
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Homocystinuria, Spastic paraparesis, Cystathioninemia, Failure to thrive, Ventricu...	ORPHA:395
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Optic disc coloboma, Aglossia, ...	OMIM:241310
Isolated Anencephaly	Cleft lip, Thymus hyperplasia	ORPHA:563609
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Osteomyelitis, Lymphopenia, Abnormality of t...	ORPHA:228119
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Stiff Person Spectrum Disorder	Falls, Difficulty walking, Lumbar hyperlordosis, Emotional lability, Rigidity, Exaggerated startl...	ORPHA:3198
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated collecting system...	OMIM:129900
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Hearing impairment, Cervical spinal canal stenos...	ORPHA:15
Gaucher Disease, Type Ii	Spasticity, Failure to thrive, Splenomegaly, Rigidity, Hepatomegaly, Oculomotor apraxia, Hyperton...	OMIM:230900
Neurooculorenal Syndrome	Ectopic posterior pituitary, Unilateral renal agenesis, Ventriculomegaly, Hypoplasia of the bladd...	OMIM:620305
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa...	OMIM:601847
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, EEG with burst suppression, Sensorineural hearing impairment, Cardiomegaly, Eleva...	OMIM:617713
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Congenital hip dislocation, Low-set ears, Absent nipple, Ureteral triplication...	OMIM:104350
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Delayed eruption of teeth, Hearing impairment, Lymphopenia, Leukopen...	ORPHA:508542
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Poor motor coordination, Glutaric aciduria, Ventriculomegaly, Joint dislo...	ORPHA:25
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Rickets, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hyperca...	OMIM:602722
Kawasaki Disease	Hypoalbuminemia, Strawberry tongue, Hepatitis, Double outlet right ventricle with subpulmonary ve...	ORPHA:2331
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Limited elbow extension, M...	OMIM:250250
Gaucher Disease Type 3	Aortic valve calcification, Delayed skeletal maturation, Abnormal heart valve morphology, Pancyto...	ORPHA:77261
Peters Plus Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Short neck,...	ORPHA:709
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Chronic Granulomatous Disease	Splenomegaly, Otitis media, Hepatomegaly, Sinusitis, Gingivitis, Abnormality of neutrophils, Hype...	ORPHA:379
African Trypanosomiasis	Myelopathy, Difficulty walking, Hepatosplenomegaly, Hemiparesis, Weight loss, Hepatomegaly, Jaund...	ORPHA:3385
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Hepatitis, Ascites, Joint stiffness, Epiphyseal sti...	ORPHA:584
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Abnormally large globe, Knee flexion contracture, Ventricular septal defect, Th...	OMIM:603387
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Brain abscess, Hearing impairment, Recurrent otitis media, Lumbar hyperlordosis, H...	OMIM:616482
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear...	ORPHA:1131
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Okamoto Syndrome	Low-set ears, Aortic valve stenosis, Abnormal helix morphology, Exaggerated median tongue furrow,...	ORPHA:2729
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Abnormal optic nerve morphology, Retroperitoneal fibrosi...	ORPHA:449563
Houge-Janssens Syndrome 1	Congenital hip dislocation, Ventriculomegaly, Gait ataxia, Open mouth, Hydrocephalus, Scoliosis	OMIM:616355
Keipert Syndrome	Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Sensorineural hea...	ORPHA:2662
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Microspherophakia, Spinal ca...	OMIM:277600
Thanatophoric Dysplasia Type 1	Platyspondyly, Ventriculomegaly, Hearing impairment, Joint stiffness, Abnormal sacroiliac joint m...	ORPHA:1860
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis	OMIM:618042
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Retrognathia, Lateral ventricular asymmetry, Melanocytic nevus, Mitral valve...	OMIM:616914
Histiocytoid Cardiomyopathy	Optic atrophy, Failure to thrive, Hemiplegia, Congenital aphakia, Polycystic ovaries, Cardiomegal...	ORPHA:137675
Legius Syndrome	High, narrow palate, Low-set ears, Inguinal freckling, Micrognathia, Short neck, Attention defici...	OMIM:611431
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Spasticity, Lateral ventricle dilatation	OMIM:600348
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Incontinentia Pigmenti	Eosinophilia, Leukocytosis	OMIM:308300
Cutis Laxa, Autosomal Recessive, Type Iic	Low-set ears, Biventricular hypertrophy, Narrow mouth, Mitral valve prolapse, Decreased body weig...	OMIM:617402
Riddle Syndrome	Enuresis nocturna, Poor hand-eye coordination, Otitis media, Chronic sinusitis, Recurrent sinusit...	ORPHA:420741
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Cupped ear, Microphthalmia	OMIM:167730
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ...	OMIM:602347
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Hepatitis, Lymphopenia, Leukopenia, Elevated circulating cr...	ORPHA:454836
Congenitally Uncorrected Transposition Of The Great Arteries	Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t...	ORPHA:860
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Vesicoureteral reflux, Oligodontia, V...	OMIM:609460
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr...	OMIM:218600
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb sp...	OMIM:618598
Developmental And Epileptic Encephalopathy 68	Spasticity, Failure to thrive, Myoclonus, Microcephaly, Clonus, Exaggerated startle response, Fle...	OMIM:618201
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Distal 17P13.1 Microdeletion Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, EEG with spike-wave complexes, Increased overbite...	ORPHA:319171
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Failure to thrive, Glycosuria, Exocrine pancreatic insufficiency, Hypertrophic cardio...	OMIM:616539
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Conductive hearing...	ORPHA:3145
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Splenomegaly, Reduced haptoglobin l...	OMIM:210250
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Conductive hearing impairment, Failure to thrive, Renal ag...	ORPHA:2754
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Cardiomyopathy, Familial Hypertrophic, 27	Ventriculomegaly, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic cardiomyopathy,...	OMIM:618052
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Linear hyperpigmentation, Cryptorchidism, Ventricular septal defect, Hydr...	OMIM:613001
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Failure to thrive, Cervical lymphadenopathy, Lymphocytosis, Lymph...	OMIM:617718
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Tracheomalacia, Chorioretinal coloboma, Hearing impairment, Atresia of ...	ORPHA:268249
Medulloblastoma	Delayed cranial suture closure, Abnormal cranial nerve morphology, Dysmetria, Back pain, Bilatera...	ORPHA:616
Colchicine Poisoning	Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia, Hyponatre...	ORPHA:31824
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane...	OMIM:224120
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor,...	OMIM:606002
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Dysdiadochokinesis, Polydipsia, Enuresis, Hypomagnesemia, Renal sodium wasting, Se...	OMIM:612780
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Pterygium, Akinesia, Micrognathia, Microcephaly, Hydrocephalus...	OMIM:225790
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Cole-Carpenter Syndrome	Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental ename...	ORPHA:2050
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micrognathia, Malar flattening, Ence...	OMIM:224400
Tetraamelia Syndrome 1	Low-set ears, Absent external genitalia, Renal agenesis, Cleft upper lip, Micrognathia, Adrenal g...	OMIM:273395
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Melanocytic nevus, Hydrocephalus	OMIM:612247
Joubert Syndrome With Oculorenal Defect	Nephropathy, Chorioretinal coloboma, Low-set, posteriorly rotated ears, Renal insufficiency, Ence...	ORPHA:2318
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Dysplastic testes, Partial development of the penile shaft, Cryptorchidism...	OMIM:608800
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Microcytic anemia, Ankyloglossia, Recurrent otitis media, Micrognathia, Hepatic ste...	OMIM:619525
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Optic atrophy, Low-set ears, Difficulty walking, Gait ataxia, Myoclonus, Appendicular spa...	OMIM:620451
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	ORPHA:90038
Gitelman Syndrome	Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephritis, Renal potassium wasting,...	ORPHA:358
Lymphangioleiomyomatosis	Optic atrophy, Abnormal urinary color, Ascites, Abnormal morphology of female internal genitalia,...	ORPHA:538
Nephronophthisis 18	Thickened glomerular basement membrane, Portal fibrosis, Nephronophthisis, Cholestasis, Stage 5 c...	OMIM:615862
Common Variable Immunodeficiency	Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Splenomegaly, Otitis media, ...	ORPHA:1572
Pfeiffer Syndrome	Wide nasal bridge, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Shor...	ORPHA:710
Polycythemia Vera	Gingival bleeding, Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension,...	ORPHA:729
Ovarian Fibroma	Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Odontogen...	ORPHA:314473
Gitelman Syndrome	Chondrocalcinosis, Polydipsia, Failure to thrive, Renal magnesium wasting, Hypomagnesemia, Hypoca...	OMIM:263800
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Short stepped shuffling gait, Limitation of joint mobility, Interphalangeal join...	OMIM:151200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Spasticity, Ventriculomegaly, Micrognathia, Myoclonus, Malar flattening, Hypoplasi...	OMIM:253280
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Microspheroph...	OMIM:608328
Tuberous Sclerosis Complex	Chorioretinal hypopigmentation, Chronic kidney disease, Cardiac rhabdomyoma, Hypomelanotic macule...	ORPHA:805
Lymphatic Malformation 6	Cupped ear, Hearing impairment, Intestinal lymphangiectasia, Ascites, Micrognathia, Splenomegaly,...	OMIM:616843
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Rectovaginal fistula, Failure to thrive in infancy, Lymphopenia, Hep...	ORPHA:35078
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Long philtrum, Anophthalmia, Recurrent patellar dislocation, Microphthalmia, ...	OMIM:615877
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Myoglobinuria,...	ORPHA:423
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Optic Pathway Glioma	Precocious puberty, Optic atrophy, Papilledema, Hydrocephalus	ORPHA:2086
Cerebral Visual Impairment	Optic atrophy, Cerebral palsy, Clumsiness, Microcephaly, Oculomotor apraxia, Attention deficit hy...	ORPHA:447788
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaun...	OMIM:235555
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Pseudomyxoma Peritonei	Ascites, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak...	OMIM:619767
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Hydrocephalus	ORPHA:352682
Gabriele-De Vries Syndrome	Low-set ears, Oral-pharyngeal dysphagia, Micrognathia, Cryptorchidism, Patellar subluxation, Fing...	ORPHA:506358
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Compulsive behavio...	OMIM:619405
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Addictive behavior, Increased CSF protein concentration, Tip-toe gai...	ORPHA:512
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Flexion contracture	OMIM:619183
Cushing Disease	Depression, Decreased eosinophil count, Increased urinary cortisol level, Lymphopenia, Optic nerv...	ORPHA:96253
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, Bilateral sensorineural...	OMIM:614527
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Optic atrophy, Ventriculomegaly, Failure to thrive, Joint hypermobility, Hydrocephalus, Hypermela...	ORPHA:60040
Antley-Bixler Syndrome	Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial suture closure, Camptodactyly of...	ORPHA:83
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Generalized aminoaciduria, Rickets, Failure to thrive, Be...	OMIM:227810
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Low-set ears, Self-injurious behavior, Dilated third ventricle, Head-banging...	OMIM:619575
Achondroplasia	Conductive hearing impairment, Recurrent otitis media, Lumbar hyperlordosis, Limited elbow extens...	OMIM:100800
Hyperimmunoglobulinemia D With Periodic Fever	Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Lymphadenopathy, Arthri...	ORPHA:343
Costello Syndrome	Low-set ears, Micrognathia, Mitral valve prolapse, Limited elbow movement, Ventricular septal def...	OMIM:218040
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Ventriculomegaly, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hyperac...	OMIM:618314
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Tremor, Hypokalemia, Weight loss, Periodic paralysis	OMIM:613239
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple...	ORPHA:565612
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Failure to thrive, Hyperbilirubin...	OMIM:613812
Papillary Tumor Of The Pineal Region	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251915
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Sensorineural hearing impairment, Ventricular septal defect...	OMIM:243800
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia	OMIM:601809
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia	ORPHA:2688
Barber-Say Syndrome	Low-set ears, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Cryptorchidism, Hyp...	OMIM:209885
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Oligodo...	OMIM:607626
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Pericardial effusion, Splenomegaly, Chorioretinitis, Bone...	OMIM:181000
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Abnormal palate morphology	ORPHA:1540
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Vipoma	Intrahepatic cholestasis, Pituitary adenoma, Abnormal abdomen morphology, Increased circulating p...	ORPHA:97282
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Irregular hyperpigmentation, Failure to ...	ORPHA:238468
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Familial Hyperaldosteronism Type Iii	Polydipsia, Adrenal hyperplasia, Hypokalemia, Tinnitus, Left ventricular hypertrophy, Hypercalciuria	ORPHA:251274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Recurrent otitis media, Lymphopenia, Absent perip...	OMIM:600802
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Weight loss, Hepat...	ORPHA:171
Wiskott-Aldrich Syndrome	Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia...	ORPHA:906
Cherubism	Marcus Gunn pupil, Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligo...	OMIM:118400
Pancreatic Agenesis-Holoprosencephaly Syndrome	Low-set ears, Hypoamylasemia, Small for gestational age, Semilobar holoprosencephaly, Hypoplasia ...	ORPHA:556955
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Biotinidase Deficiency	Optic atrophy, Organic aciduria, Hyperammonemia, Splenomegaly, Sensorineural hearing impairment, ...	OMIM:253260
Acalvaria	Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate	ORPHA:945
Hepatoerythropoietic Porphyria	Osteopenia, Red-brown urine, Hypopigmentation of the skin, Purple urine, Erythrodontia, Erythroid...	ORPHA:95159
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Incoordination, Hepatosplenomegaly, Hepatic steatosi...	ORPHA:64
Familial Tumoral Calcinosis	Abnormality of the dentition, Nephrocalcinosis, Hypopigmented skin patches, Hyperostosis, Splenom...	ORPHA:53715
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Dilatation of the renal pelvis, Micrognathia, Narrow mouth, Everte...	OMIM:600920
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Low-set, posteriorl...	ORPHA:1110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Retinal dysplasia, Dilated third ventricle, Lateral ventri...	OMIM:613154
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Retrognathia, Abnormal earlobe morphology, Labial hypertrophy, Micrognathia, ...	ORPHA:96191
Distal Deletion 19P	Hypoplasia of the maxilla, Conductive hearing impairment, Low-set, posteriorly rotated ears, Sens...	ORPHA:96129
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hearing impairment, Failure to thrive, Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated ...	ORPHA:308552
Holoprosencephaly 7	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft palate, Microphthalmia, H...	OMIM:610828
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Carious teeth, Abnormal circulating selenium concentration, IgA depositio...	ORPHA:79408
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Situs inversus totalis, Chronic sinusitis, Absent frontal sinuses,...	OMIM:244400
Cleft Velum	Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Oral-phar...	ORPHA:99772
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Occipit...	OMIM:607361
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Low-set ears, Cupped ear, Lateral ventricle dilatation, Long philtrum, Submu...	OMIM:612863
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Meningioma	Increased circulating prolactin concentration, Hemifacial spasm, Difficulty walking, Emotional la...	ORPHA:2495
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenop...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenop...	OMIM:233710
Isolated Biliary Atresia	Periportal fibrosis, Small for gestational age, Failure to thrive, Hypopituitarism, Atretic gallb...	ORPHA:30391
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin c...	OMIM:611489
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Ventriculomegaly, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, ...	OMIM:610505
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce...	ORPHA:186
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenop...	OMIM:233690
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Sensorineural hearing impairment, Macula...	OMIM:615219
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Carious teeth, Shallow acetabular fossae, Genu...	OMIM:182250
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentratio...	OMIM:179800
Papa Syndrome	Proteinuria, Limitation of joint mobility, Lymphadenopathy, Arthritis	ORPHA:69126
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated u...	ORPHA:653
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Limitation of joint mobility, Difficulty walking, Low-set, posteriorly rotated ...	ORPHA:457359
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ...	OMIM:604278
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Nodular goi...	ORPHA:1332
Hydrolethalus Syndrome 2	Ventriculomegaly, Micrognathia, Hydrocephalus, Anencephaly, Cleft palate	OMIM:614120
Coffin-Siris Syndrome 12	Low-set ears, Velopharyngeal insufficiency, Delayed cranial suture closure, Micrognathia, Cryptor...	OMIM:619325
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620365
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss, Lymphadenopathy	ORPHA:411703
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Elevated urinary dopamine level, Conductive hearing impairment, Ele...	ORPHA:29072
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria...	ORPHA:314478
Hydrolethalus Syndrome 1	Low-set ears, Accessory spleen, Abnormal vagina morphology, Micrognathia, Complete atrioventricul...	OMIM:236680
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Unsteady gait, Scoliosis, Hydrocephalus, Hemiparesis	OMIM:617542
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Knobloch Syndrome	Macular degeneration, Occipital encephalocele, Vitreoretinopathy, Bifid ureter, Vesicoureteral re...	ORPHA:1571
Nephroblastoma	Aniridia, Nephroblastoma, Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Clitoral hypertrophy, Hearing impairment, Histiocytoid cardiomyopathy, Ve...	OMIM:309801
Intrahepatic Cholestasis Of Pregnancy	Depression, Abnormal pineal melatonin secretion, Ascites, Hyperbilirubinemia, Cholecystitis, Trem...	ORPHA:69665
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Hearing impairment, Failure to thrive, Genu valgum, Delaye...	OMIM:620099
L1 Syndrome	Spasticity, Depression, Hemiplegia/hemiparesis, Aganglionic megacolon, Gait disturbance, Hydrocep...	ORPHA:275543
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Irritability, Hyponatremia, Decreased circulating renin level, Hyposthenuria, Red...	OMIM:300539
Bartter Syndrome Type 4	Chronic kidney disease, Emotional lability, Severe failure to thrive, Bilateral sensorineural hea...	ORPHA:89938
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis, Mildly elev...	ORPHA:681
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Anemia, Oligoarthritis, Acute m...	ORPHA:3243
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Granulomatous Disease, Chronic, X-Linked	Granuloma, Lymphadenitis, Ascites, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Lymphad...	OMIM:306400
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia...	OMIM:620152
Oeis Complex	Absent scrotum, Cryptorchidism, Micropenis, Duplicated collecting system, Rectovaginal fistula, V...	OMIM:258040
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Adrenal hyperplasia, Increased urinary potassium, Decreased circulating renin level, ...	ORPHA:231580
Fanconi Renotubular Syndrome 1	Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi...	OMIM:134600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Microphthalm...	OMIM:616538
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Low-set ears, Congenital contracture, Long philtrum, Camptodactyly of finger...	OMIM:208150
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy, Smal...	OMIM:218030
Early Infantile Epileptic Encephalopathy	Spasticity, Ureterocele, Ventricular septal defect, Hypsarrhythmia, Renal dysplasia, Choreoatheto...	ORPHA:1934
Leptospirosis	Acute kidney injury, Hepatitis, Macular cotton wool spot, Chorioretinitis, Hepatomegaly, Optic ne...	ORPHA:509
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Functional abnormality of the bladder, Hepatitis, Delayed skeletal maturation, Lympho...	ORPHA:391487
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:241200
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Low-set ears, Spasticity, Micrognathia, Bicuspid aortic valve, Ataxia, Dysphagia, Hypospadias, Hy...	OMIM:220111
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, ...	OMIM:613677
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Wide nasal bridge, Spasticity, Hypopigmented skin patches, Hypogonadism, Splenomegaly, Sensorineu...	ORPHA:163746
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Microcephaly, Lymphadenopathy, Neutropenia	OMIM:617827
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Breast aplasia, Decrea...	ORPHA:3044
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Opisthotonus, Hydrocephalus, Spina bifida, Ataxia, Dysphagia	OMIM:207950
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss, Periodic paralysis, Goiter	OMIM:188580
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Ventriculomegaly, Open mouth, Prominent metopic ridge, Aplasia of the ...	ORPHA:457284
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Liddle Syndrome	Hypokalemia, Nephropathy, Renal insufficiency	ORPHA:526
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Abnormal circ...	ORPHA:199351
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Anophthalmia, Microphthalmia	OMIM:248450
Renal Tubular Acidosis Iii	Nephrocalcinosis, Rickets, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithia...	OMIM:267200
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Low-set ears, Ventriculomegaly, Retinal coloboma, Hamartoma of tongue, Occipital meningocele, Ane...	OMIM:616546
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Hearing impairment, Cholestasis, A...	OMIM:617394
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Spinal dysraphism, Cranial hyperostosis, Splenomegaly, Nephroblastoma, Scoliosis	OMIM:612918
Thyroid Lymphoma	Dysphagia, Lymphadenopathy, Goiter	ORPHA:97285
Familial Hyperaldosteronism Type I	Hypokalemia, Tinnitus, Polydipsia, Adrenal hyperplasia	ORPHA:403
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossification, Kn...	OMIM:618162
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing impairment, Camptodactyly of...	ORPHA:920
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic valve, Short neck, ...	OMIM:612474
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia, Tinnitus, Ovarian neoplasm, Renal cortical adenoma	ORPHA:231632
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Lethargy, Dysphagia, Thrombocytopenia, Acute pancreatitis	ORPHA:319218
Thanatophoric Dysplasia, Type I	Platyspondyly, Short neck, Severe platyspondyly, Hydrocephalus	OMIM:187600
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomeg...	OMIM:185000
Craniopharyngioma	Optic atrophy, Hearing impairment, Increased circulating prolactin concentration, Hypopituitarism...	ORPHA:54595
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Absent nipple, Everted...	OMIM:305100
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Polydipsia, Failure to thrive, Glycosuria, Hypernatriuria, Low-m...	ORPHA:47159
Aase-Smith Syndrome I	Open mouth, Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation, Flexion contract...	OMIM:147800
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hypoplasia of the maxilla, Cupped ear, Bilateral microphthalmos, Abnormality of car...	ORPHA:2399
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Hydrometrocolpos, Atrioventricular canal defect, Horseshoe kidney, Splenomegaly, Ap...	OMIM:617088
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, P...	ORPHA:411634
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Ventriculomegaly, Failure to thrive, Secondary microcephaly, Increased...	OMIM:617248
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Thick vermilion border, Posteriorly ...	ORPHA:228396
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess for...	OMIM:147060
Pfeiffer Syndrome Type 2	Low-set ears, Limitation of joint mobility, Tracheomalacia, Atresia of the external auditory cana...	ORPHA:93259
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Ventriculomegaly, Large for gestational age, Gait ataxia, Malar flattening, Communi...	OMIM:617011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Multicystic kidney dysplasia, Occipital encephalocele, Ventriculomegaly, Decreased te...	OMIM:615287
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Chikungunya	Gingival bleeding, Periostitis, Depigmentation/hyperpigmentation of skin, Depression, Cervical ly...	ORPHA:324625
Lethal Acantholytic Erosive Disorder	Abnormal helix morphology, Natal tooth, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, Abnor...	ORPHA:158687
Mercury Poisoning	Acute kidney injury, Tremor, Hypokalemia, Anorexia, Dystonia	ORPHA:330021
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Spasticity, Facial paralysis, Hypopigmentation of the fundus, Tetraparesis, Retinal arteriolar to...	OMIM:175780
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hepatomegaly, Decreased circulatin...	OMIM:207750
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Atresia of the external auditory ca...	ORPHA:2306
Infantile Nephropathic Cystinosis	Aminoaciduria, Pigmentary retinopathy, Rickets, Failure to thrive, Polydipsia, Glycosuria, Low-mo...	ORPHA:411629
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly	ORPHA:75565
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Splenomegaly, Hepatic steatosis, Portal hyperte...	ORPHA:567983
Otopalatodigital Syndrome, Type Ii	Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Short neck, Atrial septal defect, Hypos...	OMIM:304120
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Tsh-Secreting Pituitary Adenoma	Osteopenia, Secondary growth hormone deficiency, Female hypogonadism, Male hypogonadism, Periodic...	ORPHA:91347
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Meckel Syndrome, Type 6	Hepatic fibrosis, Occipital encephalocele, Cleft upper lip, Aplasia of the bladder, Horseshoe kid...	OMIM:612284
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Weight loss, Ele...	ORPHA:97287
Scorpion Envenomation	Acute kidney injury, Ketonuria, Glycosuria, Hemifacial spasm, Myoclonus, Tremor, Hyperkinetic mov...	ORPHA:466677
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Exstrophy-Epispadias Complex	Abnormal joint morphology, Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, ...	ORPHA:322
Cholera	Acute kidney injury, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Lethargy, Decreased u...	ORPHA:173
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Low-set ears, H...	OMIM:101400
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Conductive hea...	ORPHA:2095
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia, Periodic paralysis	OMIM:613345
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Calc...	OMIM:613471
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Spasticity, Semilobar holoprosencephaly, Conductive hearing impairment, Hypoplasia ...	OMIM:618500
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Cervical spinal canal stenosis, Hip contracture, Knee flexion contract...	OMIM:620232
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hypoplasia of the iris, Hydrocephalus, Nasofrontal encep...	OMIM:614195
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade...	ORPHA:31150
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr...	OMIM:300257
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Adrenal hyperplasia, Decreased circulating renin level	OMIM:103900
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Chorioretinal coloboma, Cryptorchidism, Sensorineural hearing impai...	OMIM:107480
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Spasticity, Joint stiffness, Hemiplegia/hemiparesis, Hydrocephalus, Aqueductal stenosis, Holopros...	ORPHA:2182
Adrenocortical Carcinoma	Increased urinary cortisol level, Irritability, Hypokalemia, Increased body weight, Abnormality o...	ORPHA:1501
Iniencephaly	Low-set ears, Absent vertebra, Spinal dysraphism, Renal agenesis, Myelomeningocele, Narrow mouth,...	ORPHA:63259
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Downturned corners of mouth, Aniridia, Micrognathia, Craniosynostosis,...	ORPHA:1064
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect...	OMIM:115197
Plasminogen Deficiency, Type I	Nephritis, Ventriculomegaly, Periodontitis, Gingival overgrowth, Nephrolithiasis, Decreased level...	OMIM:217090
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Gingival overgrowth, Nephrolithiasis, Decreased level of...	ORPHA:722
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Furrowed tongue, Facial palsy, Lymphadenopathy, Abnormal autonomic nervous sy...	ORPHA:2483
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Weight loss, Ano...	ORPHA:100080
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Spasticity, Hearing impairment, Retinopathy, Numerous pigmented freckles, Microcep...	ORPHA:220295
Dural Sinus Malformation	Myelopathy, Tetraparesis, Hemiparesis, Parkinsonism, Papilledema, Hydrocephalus, Ataxia, Poor coo...	ORPHA:97339
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio...	ORPHA:99829
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia, Periodic paralysis	OMIM:170400
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Iron deficiency ...	ORPHA:100075
Nelson Syndrome	Pituitary carcinoma, Increased circulating prolactin concentration, Increased urinary cortisol le...	ORPHA:199244
Limb Body Wall Complex	Wide nasal bridge, Progressive congenital scoliosis, Cleft lip, Abnormality of the vertebral colu...	ORPHA:2369
Hec Syndrome	Cardiomyopathy, Endocardial fibroelastosis, Abnormal retinal vascular morphology, Vaginal hydroce...	ORPHA:2119
Treacher Collins Syndrome 3	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ...	OMIM:248390
Familial Hyperaldosteronism Type Ii	Hypokalemia, Tinnitus, Adrenal hyperplasia	ORPHA:404
Sturge-Weber Syndrome	Optic atrophy, Gingival overgrowth, Hyperostosis, Abnormal choroid morphology, Attention deficit ...	ORPHA:3205
Laurin-Sandrow Syndrome	Limitation of joint mobility, Downturned corners of mouth, Abnormality of the wrist, Cryptorchidi...	ORPHA:2378
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Legius Syndrome	Inguinal freckling, Acute monocytic leukemia, Hearing impairment, Male urethral meatus stenosis, ...	ORPHA:137605
Melanosis, Neurocutaneous	Choroid plexus papilloma, Numerous congenital melanocytic nevi, Hydrocephalus, Dandy-Walker malfo...	OMIM:249400
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, ...	ORPHA:286
Viss Syndrome	Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Hypereosinop...	OMIM:619472
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Hypertonia, Exaggerated startle response	ORPHA:163985
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Depression, Abnormal circulating biopterin concentration, Tremor, ...	OMIM:612716
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Weight loss, Ano...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Weight loss, Ano...	ORPHA:100082
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Anorexia, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, B...	ORPHA:100085
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin...	ORPHA:2795
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c...	ORPHA:1329
Gm2-Gangliosidosis, Ab Variant	Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle...	OMIM:272750
Fraser Syndrome 3	Low-set ears, Small scrotum, Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenes...	OMIM:617667
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal optic nerve morphology, Abnormality of the submandibular gland...	ORPHA:79078
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Abnormal choroid morphology, Increased urinary...	OMIM:607364
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Ventriculomegaly, Secundum atrial septal defect, Inability to walk, Partial atrioventricular cana...	OMIM:620066
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Renal agenesis, Lateral ventricle dilatation, Horseshoe kidney, Hydrocephalus, ...	OMIM:602200
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Retrognathia, Cardiomegaly, Bicuspid aortic valve, Scoliosis	ORPHA:91387
Carney Triad	Ascites, Pheochromocytoma, Lymphadenopathy, Anorexia, Anemia, Mediastinal lymphadenopathy	ORPHA:139411
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Difficulty walking, Hypertrophic cardiomyopathy, Tremor, Elevated circula...	OMIM:164310
Congenital Tricuspid Valve Dysplasia	Right ventricular hypertrophy, Patent foramen ovale, Abnormal tricuspid valve annulus morphology,...	ORPHA:555874
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus, Hypertonia, Ataxia, Abnormal sal...	ORPHA:31
Holoprosencephaly 14	Low-set ears, Ventriculomegaly, Cleft lip, Alobar holoprosencephaly, Macrotia, Ventricular septal...	OMIM:619895
Holoprosencephaly 2	Bifid uvula, Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, ...	OMIM:157170
Neurofibromatosis, Type I	Inguinal freckling, Pheochromocytoma, Genu valgum, Renal artery stenosis, Hypsarrhythmia, Multipl...	OMIM:162200
Loeys-Dietz Syndrome 1	Low-set ears, Bifid uvula, Retrognathia, Micrognathia, Malar flattening, Spondylolisthesis, Joint...	OMIM:609192
Ileal Neuroendocrine Tumor	Hydronephrosis, Iron deficiency anemia, Weight loss, Lymphadenopathy, Tricuspid stenosis, Extrahe...	ORPHA:100078
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Low-set ears, Hypoplasia of the premaxilla, Unilateral renal age...	ORPHA:2673
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Hyperekplexia 1	Myoclonus, Hypertonia, Exaggerated startle response, Frequent falls, Hip dislocation	OMIM:149400
Plague	Depression, Lymphadenitis, Hearing impairment, Chapped lip, Anorexia, Splenomegaly, Arthritis, Un...	ORPHA:707
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Full Nf2-Related Schwannomatosis	Myelopathy, Abnormal optic nerve morphology, Bilateral vestibular schwannoma, Epiretinal membrane...	ORPHA:637
Isotretinoin Embryopathy-Like Syndrome	Anotia, Micrognathia, Conotruncal defect, Hydrocephalus, Cleft palate, Microtia	OMIM:243440
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Failure to thrive, Hypernatriuria, Decreased glomerular filtration ...	OMIM:602522
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma...	ORPHA:306542
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,...	ORPHA:90363
Holt-Oram Syndrome	Elbow dislocation, Cleft soft palate, Micrognathia, Mitral valve prolapse, Ventricular septal def...	OMIM:142900
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly, Ankylosis	OMIM:208000
Liddle Syndrome 1	Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Retrognathia, Micrognathia, Protrusio acetabuli, Mala...	OMIM:610168
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Tinnitus, Increased urinary potassium, Decreased circulating renin level	ORPHA:231625
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Renal ...	OMIM:613090
Hemangioblastoma	Retinal capillary hemangioma, Neurogenic bladder, Hydrocephalus	ORPHA:252054
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Hyperekplexia 3	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614618
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Helix Syndrome	Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithi...	OMIM:617671
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Developmental And Epileptic Encephalopathy 8	Hypertonia, Exaggerated startle response	OMIM:300607
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Failure to thrive, Hypokalemia	OMIM:174900
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Sacral Defect With Anterior Meningocele	Dermal sinus tract, Absence of the sacrum, Urinary retention, Myelomeningocele, Myeloschisis, Neu...	OMIM:600145
Double Outlet Left Ventricle	Failure to thrive, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary va...	ORPHA:3427
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Tay-Sachs Disease	Cherry red spot of the macula, Hypertonia, Exaggerated startle response	OMIM:272800
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari...	ORPHA:91350
Hypomagnesemia 2, Renal	Chondrocalcinosis, Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, H...	OMIM:154020
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Gait disturbance, Normal pressure hydrocephalus	OMIM:236690
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Lateral ventricle dilatation, Irritability, Microcephaly, Hypertonia, EEG with genera...	OMIM:618367
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu...	OMIM:614188
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept...	ORPHA:3384
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Arachnoiditis	Tinnitus, Hydrocephalus, Hearing impairment, Urinary bladder sphincter dysfunction	ORPHA:137817
Hydrocephalus, Congenital, X-Linked	Spastic paraplegia, Spasticity, Aqueductal stenosis, Hydrocephalus	OMIM:307000
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Hydrocephalus, Bifid uterus, ...	ORPHA:2736
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Extra-axial cerebrospinal fluid accumulation, Spasticity, Failure to thrive, Myoclonus, Hypokalem...	OMIM:618426
Malt Lymphoma	Anemia, Weight loss, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Right ventricular dilatation, Retrognathia, Micrognathia, Joint hypermobility, Prom...	OMIM:614437
Isolated Posterior Meningocele	Thoracic hemivertebrae, Difficulty walking, Paraplegia, Occipital meningocele, Hydrocephalus, Hyp...	ORPHA:268810
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal c...	OMIM:219730
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the iris, Decreased response to growt...	OMIM:180500
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormality of the urinary system, Tetralogy of Fallot, Long nose, Communicating hydrocephalus, A...	ORPHA:2184
Large Congenital Melanocytic Nevus	Hydrocephalus, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormality of ski...	ORPHA:626
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Aganglionic megacolon, Anemia, Reduced bone mineral density, Abnormality of the panc...	ORPHA:935
Lhermitte-Duclos Disease	Macroglossia, Ovarian neoplasm, Hydrocephalus, Ataxia	ORPHA:65285
Treacher Collins Syndrome 2	Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,...	OMIM:613717
Romano-Ward Syndrome	Hypokalemia, Abnormal autonomic nervous system physiology	ORPHA:101016
Capillary Malformation-Arteriovenous Malformation	Abnormal heart morphology, Neurogenic bladder, Hydrocephalus, Abnormality of the lymphatic system	ORPHA:137667
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Short nose, Sensorineural hearing impairment	OMIM:122880
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Congenital Tracheomalacia	Tracheomalacia, Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular se...	ORPHA:95430
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Hypomagnesemia, Abnormal circulating biopterin concentration, ...	ORPHA:1578
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Prostate neoplasm, Follicular hyperplasia, Orchi...	ORPHA:556
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, Anterior ...	OMIM:300106
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognath...	ORPHA:989
Neuroendocrine Neoplasm Of Appendix	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Anorexia, Hepatomegaly...	ORPHA:100079
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Conductive hearing impairment, Ataxia	ORPHA:1861
Thoracoabdominal Syndrome	Renal agenesis, Cleft upper lip, Anencephaly, Transposition of the great arteries, Hydrocephalus,...	OMIM:313850
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Ablepharon-Macrostomia Syndrome	Low-set ears, Microtia, first degree, Microtia, third degree, Hypoplasia of the zygomatic bone, H...	OMIM:200110
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Chronic sinusitis, Noncommunicating hydrocephalus	OMIM:618699
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Increased urinary cortisol level, Female pseudohermaphroditism, Adrenal hyper...	ORPHA:786
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hearing impairment, Tinnitus, Cardiomegaly, Telangiectasia of the oral mucosa, Thick vermilion bo...	ORPHA:79280
Absent Radius-Anogenital Anomalies Syndrome	Rectovaginal fistula, Hydrocephalus, Perineal fistula	ORPHA:3016
Dermatomyositis	Abnormal eosinophil morphology, Weight loss	ORPHA:221
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Absence Of The Pulmonary Artery	Tetralogy of Fallot, Abnormal heart morphology, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	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.

Order Mouse and ES Cells

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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

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Human diseases caused by Spred1 mutations

Histopathology

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Access Data Release 21.1 Data