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Gene: Thrb MGI:98743

Gene Summary

Name:

thyroid hormone receptor beta

Synonyms:

Nr1a2, c-erbAbeta, TR beta, Thrb1, Thrb2, T3Rbeta, T3R[b]

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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	System	Allele	Zyg	Sex	Life Stage	P Value
decreased hemoglobin content		Thrb^{tm2a(EUCOMM)Wtsi}	HOM		Early adult	4.56×10^-05
tremors		Thrb^{tm2a(EUCOMM)Wtsi}	HOM		Early adult	1.69×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Thrb 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 Thrb (3 diseases)
Human diseases predicted to be associated with Thrb (2302 diseases)

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

Disease	Matching phenotypes	Source
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c...	OMIM:188570
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ...	OMIM:274300
Thyroid Hormone Resistance, Selective Pituitary	Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti...	OMIM:145650

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

Disease	Matching phenotypes	Source
Hyperthyroxinemia, Familial Dysalbuminemic	Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi...	OMIM:615999
Specific Language Impairment 2	Deficit in phonologic short-term memory	OMIM:606712
Specific Language Impairment 1	Deficit in phonologic short-term memory	OMIM:606711
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma	OMIM:188550
Thyroid Hormone Metabolism, Abnormal, 3	Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi...	OMIM:620198
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Thyroid Dyshormonogenesis 2A	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	OMIM:274500
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Pendred Syndrome	Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin...	OMIM:274600
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Thyroid Hormone Metabolism, Abnormal, 1	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy...	OMIM:609698
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:275200
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Autism, Susceptibility To, X-Linked 4	Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity	OMIM:300830
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Schizophrenia 19	Cognitive impairment	OMIM:617629
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ...	OMIM:600791
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Aurocephalosyndactyly	Craniosynostosis, 4-5 toe syndactyly, Hearing impairment	OMIM:109050
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c...	OMIM:188570
Pituitary Carcinoma	Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol...	ORPHA:300385
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari...	OMIM:616515
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Thyroid Cancer, Nonmedullary, 4	Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm	OMIM:616534
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism, Hearing impairment	OMIM:228355
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder	OMIM:613003
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	OMIM:619491
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ...	OMIM:274300
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal...	OMIM:180295
Pendred Syndrome	Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg...	ORPHA:705
Deafness, Autosomal Dominant 85	Cochlear nerve hypoplasia, Sensorineural hearing impairment	OMIM:620227
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Multinodular goiter	ORPHA:2091
Isolated Growth Hormone Deficiency, Type Iv	Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor...	OMIM:618157
Deafness-Oligodontia Syndrome	Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment	ORPHA:3230
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Thyroid Hormone Resistance, Selective Pituitary	Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti...	OMIM:145650
Gilles De La Tourette Syndrome	Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto...	OMIM:137580
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Hearing impairment, Thickened calvaria, Brachycephaly, Craniosynostosis, Facial pa...	ORPHA:178377
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Amyotrophic Lateral Sclerosis 3	Dementia, Cerebellar atrophy	OMIM:606640
Deafness, Autosomal Recessive 67	Bilateral sensorineural hearing impairment, Abnormal vestibular function, Abnormal fundus morphol...	OMIM:610265
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Thyroid Lymphoma	Lymphoma, Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, D...	ORPHA:97285
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Craniosynostosis, Sensorineural hearing impairment	ORPHA:2866
Hyperthyroxinemia, Dystransthyretinemic	Euthyroid hyperthyroxinemia	OMIM:145680
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:618830
Deafness, Autosomal Recessive 100	Abnormal vestibular function, Abnormal fundus morphology, Sensorineural hearing impairment	OMIM:618422
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Deafness, Autosomal Recessive 57	Abnormal vestibular function, Hearing impairment, Abnormal retinal morphology, Sensorineural hear...	OMIM:618003
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:95716
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, Renal cortical adenoma, Papill...	ORPHA:97290
Hyperthyroidism, Nonautoimmune	Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio...	OMIM:609152
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Hypothyroidism, Central, With Testicular Enlargement	Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu...	OMIM:300888
Thyroid Dyshormonogenesis 6	Congenital hypothyroidism, Hypothyroidism	OMIM:607200
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Thyrocerebroretinal Syndrome	Goiter, Sensorineural hearing impairment	OMIM:274240
Deafness, Autosomal Recessive 37	Abnormal vestibular function, Congenital stationary night blindness, Rod-cone dystrophy, Sensorin...	OMIM:607821
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Deafness, Autosomal Recessive 2	Vertigo, Abnormal vestibular function, Sensorineural hearing impairment	OMIM:600060
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
X-Linked Acrogigantism	Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci...	ORPHA:300373
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor...	OMIM:600785
Thyrocerebrorenal Syndrome	Euthyroid goiter, Sensorineural hearing impairment	ORPHA:3327
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, ...	ORPHA:319487
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Deafness, Autosomal Recessive 35	Abnormal ear morphology, Sensorineural hearing impairment	OMIM:608565
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism	OMIM:615269
Isolated Growth Hormone Deficiency, Type Ii	Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor...	OMIM:173100
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowi...	ORPHA:249
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim...	ORPHA:226313
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype...	OMIM:613239
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Hearing impairment, Goiter	OMIM:617577
Osseous Heteroplasia, Progressive	Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth	OMIM:166350
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Craniosynostosis, Adelaide Type	Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co...	OMIM:600593
Schizophrenia 15	Hyperactivity	OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor	OMIM:611092
Congenital Disorder Of Glycosylation, Type Iin	Osteopenia, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Cerebellar vermis atrophy, ...	OMIM:616721
Deafness, Autosomal Recessive 89	Vestibular hypofunction, Sensorineural hearing impairment	OMIM:613916
Deafness, Autosomal Recessive 84B	Vestibular hypofunction, Sensorineural hearing impairment	OMIM:614944
Deafness, Autosomal Recessive 18B	Vestibular hypofunction, Sensorineural hearing impairment	OMIM:614945
Deafness, Autosomal Recessive 15	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ...	OMIM:601869
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio...	OMIM:275000
Deafness, Autosomal Recessive 117	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:619174
Deafness, Autosomal Dominant 56	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:615629
Deafness, Autosomal Dominant 66	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:616969
Deafness, Autosomal Dominant 81	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:619500
Deafness, Autosomal Recessive 7	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:600974
Deafness, Autosomal Dominant 40	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:616357
Deafness, Autosomal Dominant 74	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:618140
Deafness, Autosomal Recessive 110	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:618094
Deafness, Autosomal Recessive 1A	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:220290
Deafness, Autosomal Dominant 71	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:617605
Deafness, Autosomal Recessive 113	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:618410
Deafness, Autosomal Recessive 99	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:618481
Deafness, Autosomal Dominant 53	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:609965
Deafness, Autosomal Dominant 25	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:605583
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid...	ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid...	ORPHA:424
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration	OMIM:603373
Episodic Kinesigenic Dyskinesia 2	Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea	OMIM:611031
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Hearing impairment, Short toe, Knee dislocation, Genu valgum, Limited e...	OMIM:614078
Anaplastic Thyroid Carcinoma	Goiter, Respiratory distress, Neoplasm of the skeletal system, Nodular goiter, Dyspnea, Anaplasti...	ORPHA:142
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Ascher Syndrome	Hypothyroidism, Deviation of finger, Goiter	ORPHA:1253
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Maffucci Syndrome	Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A...	ORPHA:163634
Deafness, X-Linked 4	High-frequency hearing impairment, Sensorineural hearing impairment	OMIM:300066
Deafness, Autosomal Dominant 49	Sensorineural hearing impairment, Progressive hearing impairment	OMIM:608372
Deafness, Mid-Tone Neural	Sensorineural hearing impairment, Progressive hearing impairment	OMIM:124700
Deafness, Autosomal Recessive 20	Hearing impairment, Sensorineural hearing impairment	OMIM:604060
Deafness, Autosomal Recessive 13	Hearing impairment, Sensorineural hearing impairment	OMIM:603098
Deafness, Autosomal Recessive 29	Hearing impairment, Sensorineural hearing impairment	OMIM:614035
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Coronary Artery Disease, Autosomal Dominant 2	Type II diabetes mellitus, Gout, Hypertension, Osteoporosis, Sudden cardiac death, Myocardial inf...	OMIM:610947
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Cowden Syndrome 5	Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydro...	OMIM:615108
Trigonocephaly With Short Stature And Developmental Delay	Lambdoidal craniosynostosis, Low-set ears, Small anterior fontanelle, Trigonocephaly, Sagittal cr...	OMIM:314320
Hypothyroidism, Congenital, Nongoitrous, 9	Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le...	OMIM:301035
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Craniosynostosis, Increased ...	OMIM:241520
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Fetal Iodine Syndrome	Hypothyroidism, Sensorineural hearing impairment	ORPHA:1910
Pediatric-Onset Graves Disease	Graves disease, Sinus tachycardia, Failure to thrive, Congestive heart failure, Goiter, Puberty a...	ORPHA:525731
Wolfram-Like Syndrome	Optic atrophy, Male hypogonadism, Congenital sensorineural hearing impairment, Central diabetes i...	ORPHA:411590
Deafness, Autosomal Dominant 22	Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type	Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:221745
Deafness, Autosomal Recessive 79	Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:613307
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Broad thumb, Hearing impairment, Clinodactyly, Short mid...	OMIM:602849
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter	OMIM:274400
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Hearing impairment, Progressive hearing impairment, Type II diabetes mellitus, Sen...	OMIM:614296
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Cowden Syndrome 6	Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydro...	OMIM:615109
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Sensorineural hearing impairment	OMIM:136600
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Hypothyroidism, Congenital, Nongoitrous, 7	Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st...	OMIM:618573
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Episodic Kinesigenic Dyskinesia 3	Dystonia, Involuntary movements, Choreoathetosis, Torticollis	OMIM:620245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia	OMIM:615041
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia, Delayed puberty	OMIM:615271
Winchester Syndrome	Generalized osteoporosis, Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis	OMIM:277950
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration	OMIM:619855
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis...	ORPHA:1879
Craniosynostosis 6	Plagiocephaly, Cerebellar atrophy, Right unilambdoid synostosis, Parietal foramina, Delayed crani...	OMIM:616602
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I...	ORPHA:2410
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Pituitary Dwarfism With Large Sella Turcica	Decreased response to growth hormone stimulation test, Hypothyroidism	OMIM:262710
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Decreased response to growth hormone stimulation test, Postnata...	OMIM:614732
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, Sagittal craniosynostosis, Cutaneous syndactyl...	OMIM:185900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Joint hypermobility, Delayed puberty, Hyperinsulinemic hypoglycemia, Osteoporo...	OMIM:616033
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Cowden Syndrome 7	Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Hem...	OMIM:616858
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Li...	ORPHA:93351
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Autosomal Recessive Omodysplasia	Low-set ears, Rhizomelia, Elbow dislocation, Micromelia, Frontal bossing, Pterygium, Micrognathia...	ORPHA:93329
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, Short foot, Short met...	OMIM:170390
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism	OMIM:300123
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy, Orbital craniosynostosis, Micrognathia, Dolichocephaly, Frontal bossing	ORPHA:1538
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Weight loss, Hyperthyroidism, Tachycardia	OMIM:188580
Pfeiffer Syndrome Type 1	Low-set ears, Toe syndactyly, Broad thumb, Hearing impairment, Finger syndactyly, Bicoronal synos...	ORPHA:93258
Precocious Puberty, Central, 1	Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele...	OMIM:176400
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat...	ORPHA:91347
Symphalangism, Distal	Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent...	OMIM:185700
Prieto Syndrome	Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Cryptorchidism, Talipes equinovarus, ...	OMIM:309610
Glutaric Aciduria Iii	Hyperthyroidism, Goiter	OMIM:231690
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Low-set, posteriorly ...	ORPHA:3369
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Craniosynostosis 3	Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Right unicoronal synostosis, Brac...	OMIM:615314
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Male hypogonadism, Absence of secondary sex characteristics, Decreased ...	ORPHA:163976
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Supernumerary nipple,...	OMIM:605274
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Abnormal epiphysis morphology, Larg...	ORPHA:90674
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ...	OMIM:612447
Craniosynostosis, Philadelphia Type	Craniosynostosis, Finger syndactyly	ORPHA:1527
Craniotelencephalic Dysplasia	Optic atrophy, Frontal bossing, Low-set, posteriorly rotated ears, Craniosynostosis, Septo-optic ...	ORPHA:1528
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Spinocerebellar Ataxia 41	Cerebellar vermis atrophy, Cerebellar atrophy	OMIM:616410
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Cowden Syndrome 1	Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyp...	OMIM:158350
Thyroid Hemiagenesis	Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ...	ORPHA:95719
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Low-set ears, Stenosis of the external auditory canal, Micrognathia, Clinodactyly of the 5th fing...	ORPHA:1516
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Pseudopseudohypoparathyroidism	Obesity, Pseudohypoparathyroidism, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal	OMIM:612463
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Bangstad Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter	OMIM:210740
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Cryptorchidism, Patellar subluxation, Bilateral talipes equinovarus, Osteopo...	ORPHA:2958
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233300
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Isolated Glycerol Kinase Deficiency	Osteoporosis, Adrenocortical hypoplasia, Cryptorchidism	ORPHA:408
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Failure to thrive, Joint hypermobility, Diaphyseal dysplasia, Metaphyseal d...	OMIM:614727
Jackson-Weiss Syndrome	Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m...	OMIM:123150
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia	OMIM:615945
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Crouzon Syndrome	Optic atrophy, Conductive hearing impairment, Hearing impairment, Multiple suture craniosynostosi...	ORPHA:207
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Euthyroid goiter, I...	OMIM:113650
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Osteopenia, Fractures of the long bones, Equinovarus deformity, Talipes cal...	ORPHA:319195
Rothmund-Thomson Syndrome, Type 1	Osteoporosis, Male hypogonadism, Hypothyroidism	OMIM:618625
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Short toe, Short finger, Hypogonadism, Obesity, P...	OMIM:103580
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Recurrent otitis media, Scaphocephaly, Arthropathy, Clubbing, Cran...	OMIM:618523
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Precocious puberty, Short tibi...	ORPHA:356961
Meningioma	Neoplasm of the skin, Increased circulating prolactin concentration, Neoplasm of the posterior pi...	ORPHA:2495
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301033
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Metaphys...	ORPHA:2501
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Hyp...	ORPHA:1332
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Epilepsy, Progressive Myoclonic, 12	Mental deterioration, Difficulty walking, Dysmetria, Attention deficit hyperactivity disorder, At...	OMIM:619191
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Cutis Laxa, Autosomal Recessive, Type Iie	Copper beaten skull, Hearing impairment, Clinodactyly of the 5th finger, Joint hypermobility, Bra...	OMIM:619451
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Frontal bossing, Trident hand, Limi...	OMIM:146000
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ...	OMIM:303110
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Abnormal antihelix morphology, Turricephaly, Brachyc...	ORPHA:2145
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Acrofacial Dysostosis Syndrome Of Rodriguez	Low-set ears, Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of...	OMIM:201170
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin...	OMIM:241530
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Atrioventricular block, Type I diabetes mellitus, Carpal osteolysis, Abnormal hand mo...	ORPHA:371428
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
X-Linked Intellectual Disability, Cilliers Type	Coronal craniosynostosis, Male hypogonadism, Small hand, Absence of secondary sex characteristics...	ORPHA:163971
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st...	ORPHA:1263
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Carney Complex, Type 1	Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ...	OMIM:160980
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Hyperthyroidism, Hearing impairment, Increased circulating prolactin conc...	OMIM:617675
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Hearing impairment, Increased circulating prolactin concentration, Hypert...	ORPHA:502423
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Summitt Syndrome	Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Clinodactyly of the 5th f...	ORPHA:3210
Gorham-Stout Disease	Osteopenia, Abnormal calvaria morphology, Hearing impairment, Cortical irregularity, Osteomyeliti...	ORPHA:73
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Low-set ears, Brachycephaly, Craniosynostosis, Frontal bossing, Macrotia	ORPHA:314575
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea...	ORPHA:174
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Acrocraniofacial Dysostosis	Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall...	ORPHA:949
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Eleva...	OMIM:264700
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Craniofrontonasal Dysplasia	Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Clinodactyly of the 5th fi...	ORPHA:1520
Osteogenesis Imperfecta, Type Xxii	Slender long bone, Decreased circulating osteocalcin level, Bowing of the long bones, Pseudoarthr...	OMIM:619795
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Th...	ORPHA:64744
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Eleva...	OMIM:277440
Dystonia 23	Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp	OMIM:614860
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism	OMIM:262700
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Familial Hyperprolactinemia	Osteoporosis, Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst	ORPHA:397685
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, Decreased response to growth hormone stimulation test, Broad finger, 11 pairs of ri...	ORPHA:488632
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea...	OMIM:225250
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous system physiology, Goiter	ORPHA:83601
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Cone-shaped epiphysis, Carpal synostosis, Sensorineural ...	ORPHA:53271
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana...	ORPHA:3216
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Failure to thrive, Goiter, Reduced left ventricular ejection fraction, Ab...	ORPHA:254892
Hypophosphatasia, Childhood	Dolichocephaly, Short stature, Craniosynostosis, Frontal bossing, Bowing of the legs	OMIM:241510
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, ...	OMIM:602152
Myasthenia Gravis	Hearing impairment, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnorm...	ORPHA:589
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Toe syndactyly, Cerebral atrophy, Micrognathia, Large fontanelles, Turricephaly, Bo...	ORPHA:171839
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Graves disease, Hypogonadism, Primary adrenal insufficiency, Abnormalit...	ORPHA:3143
Kleeblattschaedel	Craniosynostosis, Elbow ankylosis, Cloverleaf skull	OMIM:148800
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp...	ORPHA:2788
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Osteop...	OMIM:614880
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Hyaline Fibromatosis Syndrome	Osteopenia, Failure to thrive, Progressive flexion contractures, Osteoporosis, Flexion contractur...	OMIM:228600
Craniosynostosis 1	Oxycephaly, Scaphocephaly, Prominent occiput, Turricephaly, Dolichocephaly, Sagittal craniosynost...	OMIM:123100
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Recurrent otitis media, Hypothyroidism, Hyperthyroidism, Diabetes mellitus, Macrotia	ORPHA:449291
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Delayed cranial suture cl...	OMIM:175700
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Hamartoma	ORPHA:141152
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dysphagia, Gait ataxia, Hyperactivity, Impulsivity	OMIM:620448
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Attention deficit hyperactivity disorder, Bradykinesia	OMIM:618878
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Frontal bossing, Micrognathia, Craniosynostosis, Posteriorly rotated ea...	OMIM:619873
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R...	ORPHA:53697
Osteoporosis	Osteoporosis	OMIM:166710
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia	OMIM:617113
Odontochondrodysplasia 1	Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epi...	OMIM:184260
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Perrault Syndrome 1	Increased circulating gonadotropin level, Osteoporosis, Talipes equinovarus, Pes cavus	OMIM:233400
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypotension, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adre...	ORPHA:199299
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Arachnodactyly, Long toe, Long ...	OMIM:619489
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hypothyroidism, Diabetes mellitus, Osteoarthritis, Ost...	ORPHA:77296
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi...	OMIM:251450
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins...	ORPHA:54595
Saethre-Chotzen Syndrome	Low-set ears, Broad thumb, Hearing impairment, Finger syndactyly, Prominent crus of helix, Delaye...	ORPHA:794
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia, Absence of pubertal development, Hypogonadism	OMIM:615267
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele...	OMIM:618187
Hydrocephalus, Autosomal Dominant	Sagittal craniosynostosis	OMIM:123155
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Fibular bowing, F...	OMIM:600081
Greig Cephalopolysyndactyly Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Preaxial hand polydac...	ORPHA:380
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Craniosynostosis, Aplasia/Hypoplasia of the radius, Split hand	ORPHA:2117
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay...	OMIM:617974
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hip dislocation, Shortening of all middle phalanges of the fingers, Hypopla...	OMIM:226980
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath...	OMIM:300952
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hearing impairment, Transient neonatal diabetes mellitus, H...	ORPHA:99886
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Pyle Disease	Absent paranasal sinuses, Genu valgum, Limited elbow extension, Metaphyseal widening, Thin bony c...	OMIM:265900
Dystonia 16	Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia	ORPHA:210571
Deafness, X-Linked 5, With Peripheral Neuropathy	Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,...	OMIM:300614
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Macrocephaly-Developmental Delay Syndrome	Microretrognathia, Abnormal speech discrimination, Scaphocephaly, Clinodactyly of the 5th finger,...	ORPHA:397612
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Osteopenia, Skull asymmetry, Short femoral neck, Proximal femoral epiphysiolysis, S...	OMIM:616723
Craniosynostosis 7	Craniosynostosis	OMIM:617439
Craniosynostosis 5, Susceptibility To	Craniosynostosis	OMIM:615529
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, Joint stiffness...	OMIM:208230
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Hearing impairment, Short tibia, Radial club hand, Cutaneous finge...	ORPHA:93322
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Hypogonadism, Osteoporosis, Abnormality of endocrine pancreas physiology,...	ORPHA:79230
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Fro...	ORPHA:1515
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f...	ORPHA:67045
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia, O...	ORPHA:100024
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop...	ORPHA:231720
Microcephaly-Micromelia Syndrome	Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn...	OMIM:251230
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Central diabetes insipidus, Decreased circulating osteocalcin level	OMIM:125700
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Succinic Acidemia	Respiratory distress	OMIM:600335
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White s...	OMIM:618234
Spinocerebellar Ataxia Type 38	Gait ataxia, Tremor	ORPHA:423296
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, ...	ORPHA:1423
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism	OMIM:615270
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Elevated circulati...	OMIM:307800
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno...	ORPHA:166277
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Elev...	ORPHA:289157
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic cervical vert...	ORPHA:2635
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Failure to thrive, Hypertrophic cardiomyopathy, Delayed puberty, Osteoporosis	ORPHA:369
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Low-set ears, Abnormality...	ORPHA:313855
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Shallow acetabular foss...	OMIM:201000
Warburg Micro Syndrome 1	Failure to thrive, Overlapping toe, Micrognathia, Cryptorchidism, Joint hypermobility, Osteoporosis	OMIM:600118
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ...	OMIM:615830
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Greenberg Dysplasia	Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica...	ORPHA:1426
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Antley-Bixler Syndrome	Camptodactyly of finger, Low-set, posteriorly rotated ears, Delayed cranial suture closure, Joint...	ORPHA:83
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Hypothyroidism, Hyperthyroidism, Increased circulating antibody level	ORPHA:48377
Ollier Disease	Precocious puberty, Micromelia, Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple ...	ORPHA:296
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hypogonadotr...	OMIM:610628
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality of th...	ORPHA:457395
Hyperleucine-Isoleucinemia	Retinal degeneration, Sensorineural hearing impairment	OMIM:238340
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial paralysis, Hearing impairment, Flared metaphysis, Pathologic fracture, Oste...	OMIM:259700
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Oxycephaly, Preaxial foot polydactyly, Genu valgu...	ORPHA:65759
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Aplasia/Hypoplasia of the thymus, Osteomalacia, Camptodactyly of finger, ...	ORPHA:2176
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Decreased body weight, Brachydactyly, Short femoral neck, Small for...	OMIM:618392
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Hartnup Disorder	Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia	OMIM:234500
Cardiocranial Syndrome, Pfeiffer Type	Low-set ears, Slender finger, Cutaneous syndactyly of toes, Contracture of the proximal interphal...	ORPHA:2872
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro...	OMIM:219080
Osteoglosphonic Dysplasia	Rhizomelia, Micrognathia, Protruding ear, Brachydactyly, Abnormal bone ossification, Craniosynost...	ORPHA:2645
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Micrognathia, Hypogonadotropic hypogonadism, Finger joint contracture, Osteoporosis, Flexion cont...	ORPHA:48431
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ...	OMIM:610475
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Hypertensive crisis, Elevated circulating calcitonin concentration, E...	ORPHA:653
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis, Hypogonadotropic hypogonadism, Clinodactyly, Decreased testicular size	OMIM:614838
Glut1 Deficiency Syndrome 2	Splenomegaly, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis	OMIM:612126
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of...	ORPHA:785
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276575
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro...	OMIM:616897
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Frontal bossing, Joint stiffness...	ORPHA:1860
Usher Syndrome Type 1	Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Subcortical...	ORPHA:231169
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Wormian bones, Brachyc...	OMIM:604757
Frontoocular Syndrome	Low-set ears, Coronal craniosynostosis, Trigonocephaly, Micrognathia, Posteriorly rotated ears	OMIM:605321
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ...	ORPHA:52368
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob...	ORPHA:93284
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Hall-Riggs Syndrome	Osteoporosis, Failure to thrive, Brachydactyly, Metaphyseal dysplasia	OMIM:234250
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Orofaciodigital Syndrome Iv	Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Cerebral atrophy, Microgna...	OMIM:258860
Bent Bone Dysplasia Syndrome 1	Low-set ears, Coronal craniosynostosis, Micrognathia, Decreased calvarial ossification, Short cla...	OMIM:614592
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Stenosis of the extern...	OMIM:207410
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Joint stiff...	ORPHA:465508
Juvenile Paget Disease	Coarse metaphyseal trabecularization, Cranial hyperostosis, Bowing of the long bones, Osteoporosi...	ORPHA:2801
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276580
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231183
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty...	ORPHA:453533
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Low-set ears, Hearing impairment, Joint hypermobility, Craniosynostosis, Microtia	OMIM:619056
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Liberfarb Syndrome	Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Bone...	OMIM:618889
Osteogenesis Imperfecta, Type Xii	Hypermobility of interphalangeal joints, Hyperextensibility of the finger joints, Bowing of the a...	OMIM:613849
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Pes cavus, Bilateral sensorineural hearing impairment, Increased bone m...	OMIM:616943
Hydatidiform Mole	Hyperthyroidism	ORPHA:99927
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi...	OMIM:619073
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Gomez-Lopez-Hernandez Syndrome	Skull asymmetry, Decreased response to growth hormone stimulation test, Turricephaly, Wormian bon...	OMIM:601853
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hemolytic anemia, Hand tremor	OMIM:609153
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Cutane...	OMIM:614378
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morpho...	ORPHA:93160
Congenital Atransferrinemia	Hypothyroidism	ORPHA:1195
Pycnodysostosis	Small hand, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Shor...	ORPHA:763
Pituitary Hormone Deficiency, Combined, 3	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita...	OMIM:221750
Migraine, Familial Hemiplegic, 1	Ataxia, Hemiplegia, Tremor, Hemiparesis	OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion...	ORPHA:3206
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Deep longitudinal plantar crease, Failure to thrive, Elbow flexion...	OMIM:214150
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Congenital hypothyroidism	ORPHA:88643
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor...	OMIM:610489
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Graves disease, Obesity, Palpitations, Shortened PR interva...	ORPHA:79102
Hypothyroidism Due To Tsh Receptor Mutations	Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De...	ORPHA:90673
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Mitral stenosis, Cryptorchidism, Abno...	ORPHA:2008
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the u...	OMIM:119100
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Excessive insulin response to glucagon test, Palpitations, ...	ORPHA:324575
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia	OMIM:615768
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Delayed cranial suture ...	OMIM:603116
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Severe short stature, ...	OMIM:132400
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b...	ORPHA:89936
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ...	ORPHA:314978
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Hunter-Mcalpine Craniosynostosis Syndrome	Craniosynostosis	OMIM:601379
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Limitation of joint mobilit...	ORPHA:95699
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Conductive hearing i...	ORPHA:503
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Toe syndactyly, Elbow flexion contracture, Hip contracture, Knee flexion contracture,...	OMIM:616809
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Low-set ears, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Pontocerebellar atrophy, Crani...	OMIM:620428
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti...	OMIM:601559
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperhidrosis, Hyperi...	ORPHA:276608
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Growth delay, Abnormal foot morphology, Up...	ORPHA:94068
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:98754
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615841
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Failure to thrive in infancy, Osteomyelitis, Increased circulating IgE ...	ORPHA:37042
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Short femoral neck, Camptodactyly of finger, Mitral regurgitation, C...	ORPHA:2848
Ck Syndrome	Slender build, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig...	OMIM:300831
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Pes...	OMIM:601455
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A...	ORPHA:1215
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level...	OMIM:609441
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis, Gastrointestinal hemorrhage, Failure to thrive, Splenomegaly	ORPHA:79301
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes, Talipes...	OMIM:108720
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo...	ORPHA:1106
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Hearing impairment, Broad thumb, Hypoplastic iliac win...	OMIM:609945
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis, Cone-shaped epiphysis	ORPHA:71267
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Marshall-Smith Syndrome	Optic atrophy, Conductive hearing impairment, Slender long bone, Increased susceptibility to frac...	ORPHA:561
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli...	OMIM:617284
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Slender long bones with na...	ORPHA:50811
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
8Q22.1 Microdeletion Syndrome	Low-set ears, Limitation of joint mobility, Finger syndactyly, Sandal gap, Camptodactyly of finge...	ORPHA:178303
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Popliteal pterygium, Hearing impairment, Carpal synostosis, Elbow contracture, Elbo...	OMIM:178110
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:98793
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture	OMIM:174810
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Clinodactyly, Micrognathia, Pes planus, Hip dislocati...	ORPHA:96148
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ...	ORPHA:276556
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy...	ORPHA:251282
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Ruijs-Aalfs Syndrome	Clinodactyly, Hypogonadism, Elbow flexion contracture, Micrognathia, Down-sloping shoulders, Decr...	OMIM:616200
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Craniosynostosis	OMIM:614416
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:177904
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Broad femoral neck, Limitation of joint...	ORPHA:1159
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio...	OMIM:619827
Pachydermoperiostosis	Gastrointestinal hemorrhage, Small hand, Clubbing of toes, Abnormal epiphysis morphology, Palmopl...	ORPHA:2796
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Trun...	OMIM:620639
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Congenital hip dislocation, Joint contracture of the hand,...	OMIM:255800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:177901
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:616950
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Holoprosencephaly, Semilobar, With Craniosynostosis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal phalanx of finger, Hypoplasti...	OMIM:601370
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small hand, Xerostomia, Absence of pubertal development, Type II diabetes m...	ORPHA:398079
Non-Syndromic Genetic Deafness	Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine...	ORPHA:87884
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Hip ...	OMIM:259450
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Down Syndrome	Sandal gap, Polycythemia, Obesity, Type II diabetes mellitus, Acute megakaryocytic leukemia, Join...	ORPHA:870
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman...	ORPHA:521406
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Fractured rib, Osteopenia, Metaphyseal spurs, Femoral bowing, Ovarian cyst, ...	OMIM:618188
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ...	ORPHA:2097
Testicular Anomalies With Or Without Congenital Heart Disease	Abnormality of thyroid physiology	OMIM:615542
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Hypopituitarism, Decreased circulating free T4 concentration, Decreased circulating free T3, Hypo...	OMIM:613038
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Hearing impairmen...	ORPHA:1508
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia	OMIM:128235
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Polyarticular arthri...	ORPHA:289176
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations	OMIM:615048
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Functioning Gonadotropic Adenoma	Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation...	ORPHA:91348
Atelosteogenesis Type I	Rhizomelia, Joint dislocation, Absent or minimally ossified vertebral bodies, Micrognathia, Talip...	ORPHA:1190
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Osteomalacia, Pathologic fracture, Hypophosphate...	ORPHA:157215
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Thymoma, Type I diabetes mellitus, Graves disease, Xerostomia, Anterior pituitary dys...	ORPHA:227982
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Low-set ears, Small hand, Mild hearing impairment, Trigonocephaly, Scaphocephaly, Micrognathia, B...	ORPHA:459061
Ane Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased serum testosterone concentration, ...	ORPHA:157954
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shorten...	OMIM:268305
Potocki-Shaffer Syndrome	Micrognathia, Decreased skull ossification, Hypothyroidism, Delayed puberty, Anemia, Hypertension	ORPHA:52022
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Hearing impairment...	ORPHA:1826
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Failure to thrive, Hyperinsulinemia, Decreased circulating IgA level, Splenomegaly, P...	OMIM:613327
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615842
Mycetoma	Structural foot deformity, Abnormal forearm bone morphology, Painless fractures due to injury, Pa...	ORPHA:2583
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism	OMIM:275120
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,...	OMIM:617519
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly, Failure to thrive, Hypogonadism, Micrognathia, Clinodactyly of the 5th finger, Trun...	ORPHA:73272
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge...	OMIM:305620
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hypophosphatemic rickets, Large for gestational age, Pancreatic islet-cell hype...	ORPHA:263455
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Female hypogonadism, Male hypogonadism, Absence of secondary sex characteristics, Abs...	ORPHA:432
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, Microgn...	ORPHA:166035
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Osteogenesis Imperfecta, Type Xxi	Bowing of the arm, Joint hypermobility, Pes valgus, Pes planus, Coxa vara, Osteoporosis, Recurren...	OMIM:619131
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c...	ORPHA:50815
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Optic atrophy, Conductive hearing impairme...	OMIM:123500
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati...	ORPHA:93296
Intellectual Developmental Disorder, Autosomal Recessive 38	Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,...	OMIM:615516
16P13.11 Microduplication Syndrome	Joint hypermobility, Arachnodactyly, Dolichocephaly, Hand polydactyly, Pes planus, Craniosynostosis	ORPHA:261243
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased circulating T4 concentration, Abnormality of thyroid physiology, Decreased thyroid-stim...	ORPHA:95715
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Laron Syndrome	Decreased serum insulin-like growth factor 1, Delayed menarche, Limb undergrowth, Short long bone	OMIM:262500
Osteogenesis Imperfecta, Type Xiii	Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphysis, Recurrent fractures, Decrea...	OMIM:614856
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Glycine Encephalopathy 1	Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Low-set ears, Trigonocephaly, Scaphocephaly, Micrognathia, Pes planus, Sagittal craniosynostosis	OMIM:616901
Prader-Willi Syndrome	Premature adrenarche, Small hand, Xerostomia, Central adrenal insufficiency, Cryptorchidism, Shor...	ORPHA:739
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Decreased response to growth hormone stimulation test	OMIM:245590
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobility, Short toe...	ORPHA:2619
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Sinus tachycardia, Failure to thrive, Pathologic fracture, Decreased serum lep...	OMIM:614008
Usher Syndrome, Type Iv	Abnormal vestibular function, Progressive sensorineural hearing impairment, Hyperautofluorescent ...	OMIM:618144
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Recurrent otitis media, Trigonocephaly, Sagittal craniosynostos...	OMIM:618027
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Methemoglobinemia, Opisthotonus, Hypertonia	OMIM:250800
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Abnormal metacarpal morph...	ORPHA:2370
Spinocerebellar Ataxia Type 37	Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis	ORPHA:363710
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Lowry-Maclean Syndrome	Craniosynostosis, Intrauterine growth retardation	OMIM:600252
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobility, Epiphyseal stippling, Li...	ORPHA:177
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism	OMIM:612702
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased circulating T4 concentration, Hypothyroidism, Decreased thyroid-stimulating hormone level	OMIM:275100
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk...	OMIM:213600
Hypophosphatasia	Large fontanelles, Bowing of the long bones, Short stature, Craniosynostosis, Abnormal metaphysis...	ORPHA:436
Terminal Osseous Dysplasia	Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Mul...	OMIM:300244
Urocanase Deficiency	Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Rhyns Syndrome	Osteopenia, Hypoplastic ilia, Hypopituitarism, Small epiphyses, Abnormal acetabulum morphology, A...	ORPHA:140976
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Pe...	ORPHA:563
Muscular Hypertonia, Lethal	Respiratory distress	OMIM:254120
Adducted Thumbs Syndrome	Craniosynostosis, Arthrogryposis multiplex congenita	OMIM:201550
19P13.3 Microduplication Syndrome	Precocious puberty, Clinodactyly, Unilateral cryptorchidism, Micrognathia, Pes cavus, Pulmonary a...	ORPHA:447980
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Low-set ears, Enlarged metaphyses, Genu valgum, Micrognathia, Radioulnar synostosis, Talipes equi...	OMIM:245600
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp...	OMIM:616113
Chromosome 5P13 Duplication Syndrome	Low-set ears, Frontal bossing, Long foot, Turricephaly, Brachycephaly, Large hands, Long fingers,...	OMIM:613174
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
19P13.12 Microdeletion Syndrome	Low-set ears, Toe clinodactyly, Conductive hearing impairment, Finger syndactyly, Sandal gap, Dee...	ORPHA:254346
Allan-Herndon-Dudley Syndrome	Prominent antihelix, Stahl ear, Elevated circulating thyroid-stimulating hormone concentration, H...	OMIM:300523
Cantu Syndrome	Erlenmeyer flask deformity of the femurs, Broad hallux, Large for gestational age, Broad first me...	OMIM:239850
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Type I diabetes mellitus, Rickets, Failure to thrive	OMIM:560000
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Short distal phalanx of finger, Decreased serum estradiol, Insulin-resistant diabetes...	ORPHA:2959
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
3Q29 Microduplication Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Sandal gap, Large fontanelles, Camptodactyly of...	ORPHA:251038
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Bruck Syndrome	Joint stiffness, Bowing of the long bones, Talipes equinovarus, Osteoporosis, Arthrogryposis mult...	ORPHA:2771
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Tremor	OMIM:619651
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Hypogonadotropic hypogona...	OMIM:235200
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Optic nerve hypoplasia, Bicoronal synostosis, Brachycephaly, Delayed...	OMIM:618736
Achondroplasia	Rhizomelia, Neonatal short-limb short stature, Radial bowing, Flared metaphysis, Frontal bossing,...	OMIM:100800
Laryngotracheal Angioma	Respiratory distress, Facial hemangioma, Apnea, Intercostal retractions	ORPHA:137935
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Slender long bone, Trigonocephaly, Micrognathia, Decreased calvarial ossification,...	OMIM:618265
Familial Isolated Hyperparathyroidism	Osteopenia, Elevated circulating parathyroid hormone level, Parathyroid adenoma, Generalized oste...	ORPHA:99879
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypotension, Decreased response to growth hormone stimulation test, Panhypopituitaris...	ORPHA:95619
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Micrognathia, Cryptorchidism, Telangiectasia of the skin, Joint contracture, O...	OMIM:615381
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Peripapillary atrophy, Retinal pigment epithelial mottling, Sensorineural h...	OMIM:617879
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:612885
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperinsulinemia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration	OMIM:620211
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari...	OMIM:600501
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty	OMIM:612079
Ziegler-Huang Syndrome	Hypogonadism, Elevated circulating follicle stimulating hormone level, Cryptorchidism, Anterior p...	OMIM:620501
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Joubert Syndrome 38	Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ...	OMIM:619476
Lennox-Gastaut Syndrome	Mental deterioration, Aggressive behavior, Falls, Hyperactivity	ORPHA:2382
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Delayed cranial suture closure, Postnatal growth retardation, Intrauterine growth ret...	ORPHA:93324
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Gingival fibromatosis	ORPHA:1832
Spinocerebellar Ataxia 32	Testicular atrophy, Cerebellar atrophy, Cognitive impairment	OMIM:613909
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait	OMIM:301107
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Pathologic fracture, Increased proportion of CD25+ mast...	ORPHA:98850
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Postaxial foot polydactyly, Global brain atrophy, Hearing impairment, Large earlobe...	OMIM:301056
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Hearing impairment, Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Micr...	OMIM:619951
Werner Syndrome	Small hand, Congestive heart failure, Hypogonadism, Slender build, Joint stiffness, Thyroid carci...	ORPHA:902
Classic Galactosemia	Cryptorchidism, Decreased serum insulin-like growth factor 1, Delayed puberty, Abnormal erythrocy...	ORPHA:79239
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Clinodactyly, Micrognathia, Unilambdoid synostosis, Cryptorchidism, Brachycephaly,...	OMIM:618577
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image f...	OMIM:119800
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures	OMIM:126550
Spinocerebellar Ataxia Type 32	Testicular atrophy, Cerebellar atrophy, Cognitive impairment	ORPHA:276183
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:620103
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Sensorineural hearing impairment, Short ribs,...	OMIM:607143
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli...	OMIM:269200
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Idiopathic Congenital Hypothyroidism	Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De...	ORPHA:95717
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Patellar aplasia, Cryptorchidism, Telangiectasia, Neutropenia, Leukemia, Short m...	ORPHA:221008
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Short distal phalanx of finger, Micrognathia, Metaphyseal chondrodysplasia, Brachyd...	OMIM:250410
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Spinocerebellar atrophy, Optic atrophy, Hearing impairment, Cochlear degeneration	ORPHA:95433
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, EEG with focal sharp waves, Micrognathia, EEG with polyspike wave comp...	ORPHA:284417
Osteogenesis Imperfecta, Type Iii	Slender long bone, Micrognathia, Recurrent fractures, Bowing of limbs due to multiple fractures, ...	OMIM:259420
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Broad long bones, Congestive heart failure, Recurrent fra...	OMIM:166210
Juvenile Huntington Disease	Broad-based gait, Gait ataxia, Hyperactivity, Ataxia, Dementia, Bradykinesia, Progressive cerebel...	ORPHA:248111
Premature Aging Syndrome, Okamoto Type	Osteoporosis, Diabetes mellitus	OMIM:601811
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Hypoplastic cervical vertebrae, Microme...	ORPHA:628
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L...	ORPHA:45452
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Microretrognathia, Postnatal g...	OMIM:616294
Diabetes And Deafness, Maternally Inherited	Abnormal vestibular function, Pigmentary retinopathy, Vertigo, Type II diabetes mellitus, Sensori...	OMIM:520000
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l...	OMIM:615300
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ...	OMIM:619638
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Abnormal tympanic membrane morphology, Unilateral conductive hearing imp...	ORPHA:100084
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Optic disc pallor, Hypsarrhythmia, Craniosynostosis, Flexion contracture, Brain atrophy	OMIM:619076
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Short distal phalanx of finger, Conductive hearing impairment, Abnormal...	ORPHA:2095
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea, Diabetes mellitus, Neoplasm	ORPHA:140896
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Failure to thrive, Abnormal metaphysis morphology, Flat capital f...	ORPHA:157965
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra...	ORPHA:71517
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Ataxia	OMIM:617917
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Sensorineural hearing impairment, Reduced circulating...	OMIM:620651
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis, Syndactyly	OMIM:616006
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes e...	OMIM:182212
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Proximal femoral epiphysiolysis, Pheochromocytoma,...	OMIM:162300
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Large posterior fontanelle, Short tibia, Preaxial polydactyly, Micrognathia, Decrea...	OMIM:617925
Sialidosis Type 2	Osteoporosis, Flexion contracture, Splenomegaly, Pedal edema	ORPHA:87876
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Xp21 Deletion Syndrome	Finger clinodactyly, Adrenal insufficiency, Primary adrenal insufficiency, Joint hypermobility, H...	ORPHA:261476
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:108420
Craniotelencephalic Dysplasia	Craniosynostosis, Optic nerve hypoplasia	OMIM:218670
22Q11.2 Deletion Syndrome	Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Patellar dislocation, Hypopara...	ORPHA:567
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Decrease...	OMIM:608747
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Micrognat...	ORPHA:1901
Sheehan Syndrome	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:91355
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Congenital Macroglossia	Hypothyroidism	ORPHA:2430
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Seckel Syndrome	Cone-shaped epiphysis, Sandal gap, Absent earlobe, Abnormal earlobe morphology, Micrognathia, Cli...	ORPHA:808
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogonadism, Cryp...	ORPHA:3363
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Growth delay, Ectopic anterior pituitary gland, Decrease...	ORPHA:90695
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Micromelia, Genu valgum, Micrognathia, Fibular bowing, Tibial bowing, Gen...	OMIM:613848
Chromosome 10Q26 Deletion Syndrome	Low-set ears, Congenital hip dislocation, 2-3 toe cutaneous syndactyly, Toe syndactyly, Prominent...	OMIM:609625
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Radial he...	OMIM:146510
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Recurrent otitis media, Broad foot, Broad phalanx, Metaphyseal dysplasia, ...	ORPHA:2502
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Reticular pigmen...	ORPHA:1435
Landau-Kleffner Syndrome	Memory impairment, Short attention span, Gait ataxia, Aggressive behavior, Attention deficit hype...	ORPHA:98818
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Distal Duplication 5Q	Low-set ears, Absent thumb, Micrognathia, Brachydactyly, Hypoplasia of the radius, Hypoplasia of ...	ORPHA:96097
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Growth delay, Clinodactyly, Frontal bossing, Decreased response to growth hormone sti...	OMIM:614114
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Squared iliac bones, Knee dislocation, Micrognathia, Cryptorchidism, Generalized join...	OMIM:618000
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly	OMIM:612247
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Menkes Disease	Metaphyseal spurs, Joint hypermobility, Metaphyseal widening, Osteoporosis, Intracranial hemorrhage	OMIM:309400
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobility, Flared fem...	ORPHA:1427
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign	OMIM:610245
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm...	OMIM:249710
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss...	OMIM:215045
Osteoglophonic Dysplasia	Low-set ears, Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phal...	OMIM:166250
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ...	OMIM:612067
3Mc Syndrome	Low-set ears, Hip dislocation, Caudal appendage, Hearing impairment, Large fleshy ears, Radioulna...	ORPHA:293843
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Low-set ears, Cerebellar atrophy, Cerebral atrophy, Ankl...	OMIM:615398
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Ge...	OMIM:617952
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Epilepsy, Familial Adult Myoclonic, 3	Myoclonus, Tremor	OMIM:613608
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased bod...	OMIM:615468
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Disproportionate short-limb short stature, Micr...	OMIM:241500
Gaucher Disease Type 1	Splenic infarction, Osteopenia, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Patholo...	ORPHA:77259
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Osteopenia, Small hand, Small pituitary gland, Central hypothyroidism, Xerost...	ORPHA:398069
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Coronal craniosynostosis, Calvarial skull defect, Brachycephaly, Frontal bossing	ORPHA:228390
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Slender long bone, Elevated circulating thyroid-stimulating hormo...	OMIM:601812
Dietary Iron Overload Disease	Abnormal thyroid morphology, Increased circulating cortisol level, Abnormal pancreas morphology, ...	ORPHA:139507
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Low-set ears, Micrognathia, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Pes planu...	OMIM:130070
Alstrom Syndrome	Pigmentary retinopathy, Progressive sensorineural hearing impairment, Insulin-resistant diabetes ...	OMIM:203800
Kyphomelic Dysplasia	Disproportionate short stature, Limitation of joint mobility, Radial bowing, Micromelia, Flared m...	OMIM:211350
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Large posterior fontanelle, Delayed cranial suture closure, Hypopitu...	ORPHA:226307
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Pancytopenia, Macrocytic anem...	ORPHA:2169
Robinow-Sorauf Syndrome	Broad thumb, Plagiocephaly, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux...	OMIM:180750
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, Preaxial hand polydactyly, F...	ORPHA:1553
Sarcoidosis	Enlarged lacrimal glands, Parotitis, Hemolytic anemia, Leukopenia, Portal hypertension, Enlargeme...	ORPHA:797
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal hip bone morphology, Joint stiffness, Hypoplastic inferior il...	ORPHA:577
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Increased suscepti...	ORPHA:98849
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Low-set ears, Tracheomalacia, Hearing impairment, Micrognathia, Joint hypermobility, Protruding e...	ORPHA:412069
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Osteopenia, Ectopic anterior pituitary ...	ORPHA:95494
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Andersen-Tawil Syndrome	Small hand, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extra...	ORPHA:37553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Palmoplantar keratoderma, Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular ar...	OMIM:610476
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Obesity, Genu valgum, Type II diabetes mellitus, Eun...	ORPHA:91
Shprintzen-Goldberg Syndrome	Low-set ears, Osteopenia, Conductive hearing impairment, Elbow dislocation, Camptodactyly of fing...	ORPHA:2462
Prader-Willi Syndrome	Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Cryptorchidis...	OMIM:176270
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m...	ORPHA:85435
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ...	ORPHA:3455
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Pes planus, Generalized osteoporosis, Small joint hypermobilty, Short femoral neck, ...	OMIM:184095
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Congenital hypothyroidism, Obesity, Cryptorchidism, Brachydactyly, Short m...	OMIM:614613
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm...	ORPHA:209905
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Limitation of joint mobility, Failure to thrive, Arachnodactyly, Pancreatitis, Osteoporosis, Gene...	OMIM:236200
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E...	OMIM:610755
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2nd finger, Metaphyseal dysp...	OMIM:156510
Septooptic Dysplasia	Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp...	OMIM:182230
Fg Syndrome Type 1	Plagiocephaly, Cupped ear, Finger syndactyly, Clinodactyly of the 2nd finger, Optic nerve hypopla...	ORPHA:93932
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Clinodactyly, Chronic otitis media, Flat occiput, Coronal craniosyno...	OMIM:614188
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Hypoplasia of ...	OMIM:253010
Cowden Syndrome	Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo...	ORPHA:201
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Osteoporosis, Abnormal mast...	ORPHA:98848
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Laryngomalacia	Respiratory distress	OMIM:150280
Slc39A8-Cdg	Low-set ears, Osteopenia, Cerebral cortical atrophy, Cutaneous syndactyly of toes, Cerebellar atr...	ORPHA:468699
Analbuminemia	Osteoporosis, Hypotension	OMIM:616000
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi...	OMIM:618961
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Cryptorchidism, Polydactyly, Talipes, Hip dysplasia, Craniosynostosis	ORPHA:531151
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Failure to thrive, Bilateral cryptorchidism, Decrease...	ORPHA:485405
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Rickets, Failure to thrive, Decreased circulating IgA level, Macrocytic...	OMIM:212750
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Optic atrophy, Palmoplantar keratoderma, Hearing abnormality,...	ORPHA:1555
Deafness, Autosomal Dominant 50	Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres...	OMIM:613074
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Failure to thrive, Recurrent fractures, Short humerus, Lateral femoral bowing, Bowing...	OMIM:239000
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Perching Syndrome	Respiratory distress	OMIM:617055
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia	OMIM:618160
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Aplastic clavicle, Plagiocephaly, Hearing impairment, Large posterior f...	ORPHA:85199
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Osteopenia, Decreased serum estradiol, Absence of secondary sex characteri...	ORPHA:2232
Parkinsonism With Polyneuropathy	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:619279
Immunodeficiency 95	Respiratory distress	OMIM:619773
Gne Myopathy	Abnormality of the foot musculature, Cardiomyopathy, Absent Achilles reflex, Limited shoulder mov...	ORPHA:602
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Thrombocytopenia, Dystonia, Hemolytic anemia	OMIM:615010
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Hypothyroidism, Limb undergrowth, Joint contracture, Neutropenia, ...	OMIM:618005
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Osteoporosis, Eosinophilia	OMIM:620532
Acrodysostosis	Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of ...	ORPHA:950
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia	OMIM:146350
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Postnatal growth retarda...	ORPHA:235
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Plagiocephaly, Hypoplastic vertebral bodies, Brachycephaly, Brach...	ORPHA:2163
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion...	ORPHA:53351
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Tenosynovial Giant Cell Tumor	Abnormality of the ankle, Limitation of joint mobility, Abnormal shoulder morphology, Localized o...	ORPHA:66627
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B...	ORPHA:397946
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Joint stiffness, Intrauterine ...	OMIM:620494
Trigonocephaly 1	Craniosynostosis, Trigonocephaly, Metopic synostosis	OMIM:190440
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Craniosynostosis, Joint hypermobility	OMIM:618906
Craniosynostosis 4	Lambdoidal craniosynostosis, Coronal craniosynostosis, Bicoronal synostosis, Sagittal craniosynos...	OMIM:600775
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia	ORPHA:411515
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Cryptorchidism, Delayed puberty, Short foot, Sho...	OMIM:180870
Hamamy Syndrome	Low-set ears, Osteopenia, Neck pterygia, Micrognathia, Clinodactyly of the 5th finger, Sensorineu...	OMIM:611174
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,...	OMIM:617145
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Brachycephaly, Hip disloca...	OMIM:109120
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Postnatal gro...	ORPHA:254531
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Micrognathia, Angina pectoris, Myocardial infarction, Generalized osteo...	OMIM:176670
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu...	ORPHA:1452
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Microretrognathia, Contracture of the...	OMIM:300998
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Propionic Acidemia	Failure to thrive, Cardiomyopathy, Pancytopenia, Cerebellar hemorrhage, Pancreatitis, Neutropenia...	OMIM:606054
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgi...	OMIM:271640
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Cupped ear, Micrognathia, Sensorineural hearing impairme...	ORPHA:314588
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone	OMIM:614450
Proteus Syndrome	Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Splenomegaly, Thin bo...	OMIM:176920
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Osteopenia, Rhizomelia, Decreased circulating IgG level, Small epiphyses, Genu valgum,...	OMIM:271510
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Low-set, posteriorly rotated ears, Absent radius,...	ORPHA:3320
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short toe, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Spina bifida occulta, ...	OMIM:617877
Nail-Patella Syndrome	Equinovarus deformity, Abnormal tibia morphology, Talipes calcaneovalgus, Contracture of the dist...	ORPHA:2614
Cystinosis	Type I diabetes mellitus, Rickets, Failure to thrive, Portal hypertension, Hypothyroidism, Delaye...	ORPHA:213
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Short stature	OMIM:258865
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bowing of the long...	ORPHA:3103
Lowry-Maclean Syndrome	Low-set ears, Osteopenia, Widely patent coronal suture, Small anterior fontanelle, Trigonocephaly...	ORPHA:2409
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity	OMIM:619470
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph...	ORPHA:93352
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Hearing impairment, Broad hallux, Anterior plagiocephaly, Aganglionic megacolon, L...	OMIM:614749
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges...	ORPHA:2484
Geroderma Osteodysplastica	Abnormal epiphysis morphology, Recurrent fractures, Joint hypermobility, Talipes, Pes planus, Abn...	ORPHA:2078
Prolactinoma	Osteopenia, Hypotension, Female hypogonadism, Male hypogonadism, Secondary growth hormone deficie...	ORPHA:2965
15Q Overgrowth Syndrome	Low-set ears, Abnormality of the outer ear, Microretrognathia, Contracture of the proximal interp...	ORPHA:314585
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Multinodular goiter	OMIM:620189
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shortening of limbs, ...	OMIM:300863
Bardet-Biedl Syndrome 16	Respiratory distress, Hypogonadism	OMIM:615993
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concentration...	OMIM:610199
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Osteoporosis, Bone-ma...	OMIM:257200
Proximal 16P11.2 Microdeletion Syndrome	Conductive hearing impairment, Micrognathia, Sensorineural hearing impairment, Hand polydactyly, ...	ORPHA:261197
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Disproportionate short-limb short stature, S...	OMIM:258315
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Low-set ears, Carpal synostosis, Micrognathia, Large fontanelles, Pa...	OMIM:218600
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Dilated cardiomyopathy, Congestive heart failure, Bilateral cry...	ORPHA:2326
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Low-set ears, Partial duplication of the distal phalanx of the 3rd f...	OMIM:101400
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Frontal bossing, Micrognathia, Wo...	OMIM:112240
Prognathism, Mandibular	Craniosynostosis	OMIM:176700
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Metaphyseal cupping, Rhizomelia, Radial bowing, Severe limb shortening, Microme...	OMIM:151210
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ...	ORPHA:358
Meier-Gorlin Syndrome 7	Low-set ears, Copper beaten skull, Hearing impairment, Preaxial hand polydactyly, Bowing of the l...	OMIM:617063
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Obesity, Microretrognathia, Hypergonadotropic hypogonadism	OMIM:619737
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis,...	ORPHA:536467
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Attenuation of retinal...	OMIM:619260
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia	ORPHA:529665
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula...	ORPHA:293978
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Achondrogenesis Type 1A	Micromelia, Abnormal enchondral ossification, Micrognathia, Short foot, Recurrent fractures, Shor...	ORPHA:93299
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Recurrent fractures, Decreased calvarial ossification,...	OMIM:616229
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Optic atrophy, Plagiocephaly, Microretrognathia, Low-set, posteriorly rotated ears, Brachydactyly...	ORPHA:457193
Livedoid Vasculopathy	Graves disease, Polycythemia, Abnormal foot morphology, Pancytopenia, Ischemic stroke, Leukocytos...	ORPHA:542643
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Camurati-Engelmann Disease, Type 2	Osteopenia, Hypogonadism, Hyperostosis, Mitral regurgitation, Hip contracture, Knee flexion contr...	OMIM:606631
46,Xx Gonadal Dysgenesis	Osteopenia, Decreased serum estradiol, Streak ovary, Arachnodactyly, Delayed puberty, Increased c...	ORPHA:243
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re...	ORPHA:96334
Aymé-Gripp Syndrome	Low-set ears, Cerebral cortical atrophy, Plagiocephaly, Limitation of joint mobility, Delayed cra...	ORPHA:1272
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Adrenal calcification, Cryptorchidism, Decreased ...	ORPHA:289548
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Annular pancreas, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, De...	OMIM:618162
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Obesity, Abdominal obesity, Osteoporosis, Hy...	OMIM:219090
3Mc Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Conductive hearing impai...	OMIM:257920
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Fai...	ORPHA:168558
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairm...	OMIM:620469
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Sclerosis of foot bone, Sclerosis of...	ORPHA:2905
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ...	ORPHA:90064
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Micrognathia, Dysplasia of the femoral head, Cryptor...	ORPHA:536471
ERI1-related disease	Osteopenia, Small for gestational age, Failure to thrive, Tricuspid regurgitation, Slender metaca...	OMIM:608739
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Temple Syndrome	Precocious puberty, Small hand, Decreased response to growth hormone stimulation test, Postnatal ...	ORPHA:254516
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Joint h...	ORPHA:429
X Small Rings	Toe syndactyly, Upper limb undergrowth, Clinodactyly of the 5th finger, Mitral stenosis, Lower li...	ORPHA:96201
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ...	OMIM:166260
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di...	OMIM:620663
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Joint hypermobility, Limb underg...	ORPHA:1803
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Bamforth-Lazarus Syndrome	Congenital hypothyroidism, Thyroid agenesis	OMIM:241850
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit...	OMIM:605373
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Micrognathia, Talipes equinovarus, Short foot	ORPHA:93298
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ...	ORPHA:370022
Hereditary Methemoglobinemia	Spasticity, Limb dystonia, Methemoglobinemia, Hypertonia, Athetosis, Spastic tetraplegia	ORPHA:621
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Osteomyelitis, Joint hypermobility, Craniosynostosis, Chronic otitis media, Recurrent...	ORPHA:2314
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lower limb asymmetry, Congestive heart failure, Neoplasm of the thyroid gland, Talipes, Ovarian n...	ORPHA:137608
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri...	OMIM:612089
Timothy Syndrome	Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Cutaneous synda...	OMIM:601005
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo...	ORPHA:321
Osteogenesis Imperfecta, Type Xvii	Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Intraventricular hemorrhage, ...	OMIM:616507
Macs Syndrome	Micrognathia, Cryptorchidism, Decreased body weight, Joint hypermobility, Pes planus, Brachydacty...	OMIM:613075
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Cryptor...	ORPHA:221016
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Recurrent frac...	OMIM:613388
Hypomandibular Faciocranial Dysostosis	Low-set ears, Optic disc coloboma, Trigonocephaly, Brachycephaly, Craniosynostosis	ORPHA:1790
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,...	OMIM:193700
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Genu valgum, Cryptorchidism, Joint hypermobility, Brachycephaly, Growth ...	OMIM:617798
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Broad thumb, Clinodactyly, Failure to thrive, Long hallux, Micrognathia, Hallux valgu...	OMIM:620194
Muscular Dystrophy, Congenital, Lmna-Related	Failure to thrive, Elbow contracture, Paroxysmal atrial fibrillation, Hamstring contractures, Hip...	OMIM:613205
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617182
Woolly Hair Nevus	Enlarged vestibular aqueduct, Brachydactyly	ORPHA:79414
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Joint hypermobility, Epi...	OMIM:253000
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity	OMIM:618090
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Hearing impairment, Cerebral atrophy, Sensorineural hearin...	OMIM:222300
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration	ORPHA:77260
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Palmop...	OMIM:259100
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Micrognathia, Knee contracture, Bradycardia, Hip contracture, Talipes, P...	OMIM:620351
Achondroplasia	Hip joint hypermobility, Rhizomelia, Obesity, Trident hand, Limited elbow extension, Knee joint h...	ORPHA:15
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Failure to ...	ORPHA:1842
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Portal hypertension,...	OMIM:619487
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia	OMIM:213200
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Li-Campeau Syndrome	Low-set ears, Hypothyroidism, Cryptorchidism	OMIM:619189
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi...	ORPHA:2909
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Hypertrophic cardiomyopa...	ORPHA:1517
Coproporphyria, Hereditary	Tachycardia, Hypertension, Splenomegaly	OMIM:121300
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ...	ORPHA:3429
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff...	ORPHA:90796
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Conduc...	OMIM:156550
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:618049
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Cryptorchidism, Abnormal metacarpal morphology, Large hands, Aplasia/...	ORPHA:2636
Axial Spondylometaphyseal Dysplasia	Flattened femoral head, Osteopenia, Abnormal ilium morphology, Aplasia/Hypoplasia of the vertebra...	ORPHA:168549
Urocanic Aciduria	Truncal ataxia, Gait ataxia, Action tremor, Ataxia	ORPHA:210128
4H Leukodystrophy	Optic atrophy, Cerebellar atrophy, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:289494
Pontocerebellar Hypoplasia, Type 2E	Failure to thrive, Micrognathia, Facial telangiectasia, Osteoporosis, Flexion contracture	OMIM:615851
Hypophosphatasia, Adult	Rickets, Abnormal foot morphology, Pathologic fracture, Osteomalacia, Increased susceptibility to...	OMIM:146300
Microphthalmia With Limb Anomalies	Low-set ears, 2-3 toe cutaneous syndactyly, Capitate-hamate fusion, Hip dislocation, Toe syndacty...	OMIM:206920
Pseudoaminopterin Syndrome	Hypoplasia of the antihelix, Synostosis of carpal bones, Overlapping toe, Micrognathia, Mild cond...	ORPHA:221120
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Aplastic clavicle, Microtia, third degree, Hearing im...	ORPHA:2554
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal hip bone morphology, Bowing of t...	ORPHA:2631
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy...	OMIM:615849
Achondrogenesis	Abnormality of bone mineral density, Micromelia, Micrognathia, Abnormal enchondral ossification	ORPHA:932
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ...	OMIM:611572
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia	OMIM:619028
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Bowing of the legs	ORPHA:89937
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Osteopenia, Gastrointestinal hemorrhage, Congestive heart failure, Large f...	ORPHA:363705
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia	ORPHA:306669
Musculocontractural Ehlers-Danlos Syndrome	Slender finger, Microretrognathia, Hearing impairment, Low-set, posteriorly rotated ears, Recurre...	ORPHA:2953
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Alpha-Mannosidosis, Infantile Form	Genu valgum, Sensorineural hearing impairment, Bilateral coxa valga, Bilateral talipes equinovaru...	ORPHA:309282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Frontal bossing, Micrognathia, Delayed patellar ossifi...	ORPHA:163649
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Polycythemia, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal moto...	OMIM:613280
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Microretrognathia, Limitation of joint mobility, Finger syndactyl...	ORPHA:2994
Enlarged Parietal Foramina	Short clavicles, Craniosynostosis, Broad thumb, Parietal foramina	ORPHA:60015
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Micrognathia, Cryptorchidism, Broad foot, Pes planus, Broad phalanx...	ORPHA:439822
Werner Syndrome	Hypogonadism, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Diabetes mellitus	OMIM:277700
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Gastrointestinal hemorrhage, Bone marrow hypocellularity, Aplastic anemia, Avascular ...	OMIM:613990
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Tachycardia, Flexion contracture, Hypertension, Tapered ...	OMIM:613870
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Atypical Werner Syndrome	Aortic valve stenosis, Limitation of joint mobility, Insulin-resistant diabetes mellitus, Scleros...	ORPHA:79474
Cleidocranial Dysplasia 2	Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Failure to thrive, Ge...	OMIM:620099
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Corpus Callosum Agenesis-Neuronopathy Syndrome	Craniosynostosis, EEG abnormality, Turricephaly	ORPHA:1496
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia	ORPHA:139485
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Epistaxis, Rickets, Failure to thrive, Splenomegaly	OMIM:211600
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis	ORPHA:382
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade...	ORPHA:97289
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Coronal craniosynostosis, Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cuta...	OMIM:235510
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Cone-shaped ep...	OMIM:266920
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Short thumb, Macrocytic anemia, Triphalangeal thum...	OMIM:612562
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Hypercholanemia, Familial 1	Rickets, Failure to thrive	OMIM:607748
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Sensorineural hearing impairment, E...	OMIM:614129
Geroderma Osteodysplasticum	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, Camptodactyly, ...	OMIM:231070
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia	OMIM:617916
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the lower limb, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Cryptorchi...	OMIM:210710
Joubert Syndrome 26	Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism	OMIM:616784
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Frontal bossing, Decreased response to growth hormone stimulat...	OMIM:241410
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Palmoplantar keratoderma, Joint stiffness, Micrognathia, Abnormality of...	ORPHA:1979
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Acrocephalopolydactylous Dysplasia	Low-set ears, Micromelia, Oxycephaly, Postaxial hand polydactyly, Craniosynostosis, Abnormal pinn...	OMIM:200995
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ...	ORPHA:240085
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia	ORPHA:1277
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Small hand, Micrognathia, Sagittal craniosynostosis, Short stature, Hyd...	OMIM:145420
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Conductive hearing impairment, Finger syndactyly, Short tibia, Complete...	ORPHA:2751
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	ORPHA:329284
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Dilated cardiomyopathy, Cardiomyopathy, Recurrent shoulder dislocation, Mitral regurg...	OMIM:212112
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Hypoplastic vertebral b...	OMIM:230600
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Recurrent otitis media, Frontal ...	OMIM:164745
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Intestinal bleeding, Bone marrow hypocellularity, Pathologic fracture, Metaphyseal sc...	OMIM:612199
Myotonic Dystrophy 2	Decreased circulating IgG level, Hypogonadism, Palpitations, Type II diabetes mellitus, Premature...	OMIM:602668
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Cryptorchidism, Joint hypermobility, Decreased calvarial ossification, Recurrent frac...	ORPHA:2772
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Otosclerosis, Hearing impairment, Incre...	OMIM:166220
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Fused sternal ossification centers, Postaxial foot pol...	OMIM:211750
Variegate Porphyria	Tachycardia	OMIM:176200
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Hypopituitarism, Cerebral ischemia, Thrombocytopenia, ...	ORPHA:449285
Scarf Syndrome	Low-set, posteriorly rotated ears, Craniosynostosis, Short sternum, Joint hypermobility	ORPHA:3134
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Cortical irregularity, Micrognathia, Bowing of the long bones, Tal...	OMIM:249420
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, 11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Intrauteri...	OMIM:619184
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head...	OMIM:618877
Spondylo-Ocular Syndrome	Osteoporosis, Pes planus, Joint hypermobility	ORPHA:85194
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Genu valgum, Micrognathia, Hip contracture, Decreased body we...	ORPHA:800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita...	OMIM:614736
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Palmoplantar keratoderma, Multinodular goiter	OMIM:618373
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Micromelia, Short ribs	OMIM:600972
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
3Mc Syndrome 2	Caudal appendage, Hearing impairment, Skull asymmetry, Joint hypermobility, Limited elbow movemen...	OMIM:265050
Nasu-Hakola Disease	Acute leukemia, Abnormal epiphysis morphology, Limitation of joint mobility, Bone cyst, Reduced b...	ORPHA:2770
Fanconi-Bickel Syndrome	Osteopenia, Rickets, Failure to thrive, Bowing of the long bones, Diabetes mellitus	ORPHA:2088
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Squamous cell carcinoma	ORPHA:60032
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Failure to thrive, Pancytop...	OMIM:613989
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Hajdu-Cheney Syndrome	Aortic valve stenosis, Micrognathia, Decreased skull ossification, Bowing of the long bones, Abse...	ORPHA:955
Peroxisome Biogenesis Disorder 3B	Osteoporosis, Failure to thrive	OMIM:266510
Acrocephalopolydactyly	Genu recurvatum, Hepatosplenomegaly, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Kyphomelic Dysplasia	Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Bowing of the long bones...	ORPHA:1801
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Fibrochondrogenesis 1	Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, ...	OMIM:228520
Nablus Mask-Like Facial Syndrome	Low-set ears, Joint contracture of the hand, Clinodactyly, Sandal gap, Frontal bossing, Overfolde...	OMIM:608156
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Increased susceptibility to fractures, Joint hypermobility, Arachn...	ORPHA:90354
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Joint dislocation, Short toe, Ulnar deviation of the 2nd finger,...	OMIM:616145
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Pes cavus, Abnormality of the Achilles tendon, Joint hyper...	ORPHA:643
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Tremor, Frequent falls	OMIM:616719
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Cerebellar atrophy, Hypogonadism, Sensorineural hearing impairment, Hypothyroidism...	ORPHA:98673
Ddost-Cdg	Osteopenia, Failure to thrive, Primary hypothyroidism	ORPHA:300536
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Bor Syndrome	Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can...	ORPHA:107
Neu-Laxova Syndrome	Osteopenia, Rickets, Micromelia, Osteomalacia, Hypogonadism, Micrognathia, Broad foot, Large hand...	ORPHA:2671
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, Decreased motor nerve conduction velocity, Cerebral atrophy	OMIM:619851
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Short ribs, Carp...	OMIM:252600
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,...	ORPHA:79263
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Micrognathia, Optic disc coloboma	OMIM:241310
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Senior-Loken Syndrome 9	Osteopenia, Hypogonadism, Obesity, Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Difference Of Sex Development-Intellectual Disability Syndrome	Hypogonadism, Spina bifida occulta, Genu valgum, Reduced bone mineral density	ORPHA:2983
Marshall-Smith Syndrome	Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin...	OMIM:602535
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Prolonged QT interval, Ventricular arrhythmia, Increased bone mine...	ORPHA:36913
15q26 overgrowth syndrome	Low-set ears, Camptodactyly of finger, Abnormal joint morphology, Micrognathia, Joint hypermobili...	DECIPHER:81
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Mesomelia-Synostoses Syndrome	Synostosis of joints, Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal b...	ORPHA:2496
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Delayed cranial suture closure, Exocrine pancreatic insufficiency, 11 pairs of ribs, ...	OMIM:620005
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Sensorineural hearing impairment	OMIM:619406
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Reduced bone mineral density, Failure to thrive	ORPHA:172
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Osteopenia, Global brain atrophy, Cerebellar atrophy, Hearing impairment, Slender l...	ORPHA:369837
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Shortened QT interval, Pan...	ORPHA:143
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of b...	ORPHA:860
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Abnormal antihelix morphology, Cryptorchidism, Posteriorly rotated ears, Hypothyroi...	ORPHA:3047
Malaria	Respiratory distress	ORPHA:673
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia	OMIM:619911
Cerebrooculonasal Syndrome	Low-set ears, Conductive hearing impairment, Proboscis, Frontal bossing, Postaxial polydactyly, B...	OMIM:605627
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis	OMIM:610185
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Amish Lethal Microcephaly	Osteoporosis, Micrognathia, Limitation of joint mobility, Decreased skull ossification	ORPHA:99742
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612286
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ...	OMIM:618718
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Ectopic anterior pituitary gland, Thicke...	OMIM:620558
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Osteomyelitis, Micrognathia, Recurrent fractures, Tibial bowing, Congenital...	ORPHA:453510
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Hyperzincemia With Functional Zinc Depletion	Osteoporosis, Vasculitis	OMIM:601979
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Abnormal cortical bone morphology, Wide anterior fontanel, Decreased body weight	OMIM:614886
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Hypogonadotropic hypogonad...	OMIM:619718
Cranioectodermal Dysplasia 1	Low-set ears, Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened epiphysis...	OMIM:218330
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis, Short metacarpal	OMIM:617190
Three M Syndrome 1	Short 5th finger, Joint dislocation, Slender long bone, Growth delay, Decreased testicular size, ...	OMIM:273750
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Mucolipidosis Type Ii	Hip dislocation, Limitation of joint mobility, Conductive hearing impairment, Decreased movement ...	ORPHA:576
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Annular pancreas, Short thumb, Hypogonadism, Micrognathia...	OMIM:268400
Bamforth-Lazarus Syndrome	Congenital hypothyroidism, Thyroid agenesis	ORPHA:1226
Developmental And Epileptic Encephalopathy 90	EEG with burst suppression, Hypothyroidism, Hypsarrhythmia, Cerebral atrophy	OMIM:301058
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Short palm, Coxa vara	ORPHA:168555
Schneckenbecken Dysplasia	Hypoplastic scapulae, Short ribs, Limb undergrowth, Dumbbell-shaped long bone, Brachydactyly, Sho...	OMIM:269250
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Hearing impairment, Optic nerve compression, Abnormal metaphysis m...	ORPHA:667
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum...	OMIM:611590
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Small hand, Cone-shaped epiphysis, Short distal phalanx of finger, Clinodactyly, Rhiz...	OMIM:614813
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Intellectual Developmental Disorder, Autosomal Dominant 57	Otitis media, Joint hypermobility, Pes planus, Brachydactyly, Absent fourth finger distal interph...	OMIM:618050
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l...	OMIM:612301
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Short humerus, Hypothyroidism, Aplasia/Hypoplasia of the ulna, Split hand, Postaxial ...	ORPHA:2491
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Tremor, Ataxia	OMIM:614018
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Cryptorchidism, Humeroradial synostosis, Limited elbow movement, Ta...	OMIM:134780
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Elevated circulating parathyroid hormone level, Elevated circulating t...	OMIM:101800
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Cryptorchidism, Pes planus, Osteoporosis, Flexion contract...	OMIM:614438
Adrenomyodystrophy	Primary adrenal insufficiency, Reduced bone mineral density, Failure to thrive	ORPHA:977
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope, Aplasia/Hypoplasia of the distal phalang...	OMIM:192445
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Low-set ears, Short sternum, Posteriorly r...	OMIM:312830
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Joint stiffness, Talipes, Hypoplas...	ORPHA:2249
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Postnatal growth retardation, Micrognathia, Epiphys...	OMIM:619135
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re...	OMIM:210720
Atypical Juvenile Parkinsonism	Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Dystonia, Abnormal pyram...	ORPHA:391411
Refractory Celiac Disease	Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr...	ORPHA:398063
Foxp1 Syndrome	Hypoplastic helices, Recurrent otitis media, Hypothyroidism, Abnormality of the ear, EEG abnormal...	ORPHA:391372
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan...	OMIM:308050
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Ganglioneuroma, Adrenocorticotropi...	ORPHA:251937
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Primary hyperparathyroidism	OMIM:617343
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Frontonasal Dysplasia 2	Low-set ears, Parietal foramina, Calvarial skull defect, Anterior plagiocephaly, Brachycephaly, C...	OMIM:613451
Tyrosinemia Type 1	Rickets of the lower limbs, Splenomegaly	ORPHA:882
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia	ORPHA:70594
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Hypothyroidism	ORPHA:663
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Pleural Mesothelioma	Respiratory distress, Dyspnea	ORPHA:50251
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,...	ORPHA:95712
Phenylketonuria	Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Co...	OMIM:261600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Cryptorchidism, Talipes equinovarus, Long fingers, Thin bony cortex, Osteoporosis, R...	OMIM:309583
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Reduced bone mineral density, Cryptorchidism	ORPHA:466926
Myopathy And Diabetes Mellitus	Respiratory distress, Type I diabetes mellitus	ORPHA:2596
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Hearing impairment, Femoral bowing, Increased susceptibility to fractur...	OMIM:166200
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis...	OMIM:606693
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Failure to thrive	OMIM:602722
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Hypothyroidism, Delayed pub...	OMIM:616817
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased...	ORPHA:91349
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Pigmentary retinopathy, Adrenal insu...	OMIM:240300
Congenital Disorder Of Glycosylation, Type Ii	Low-set ears, Hypothyroidism, Hypsarrhythmia, Sensorineural hearing impairment	OMIM:607906
Adult-Onset Cervical Dystonia, Dyt23 Type	Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis, Writer's...	ORPHA:420492
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Farber Disease	Short toe, Failure to thrive, Short finger, Abnormal foot morphology, Hepatosplenomegaly, Anemia,...	ORPHA:333
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT...	ORPHA:96253
Atelis Syndrome 1	Hypothyroidism, Glue ear, Microtia	OMIM:620184
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Au-Kline Syndrome	Plagiocephaly, Deep plantar creases, Overlapping toe, Clinodactyly of the 5th finger, Prominent m...	OMIM:616580
Campomelic Dysplasia	Low-set ears, Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, Hearing impairme...	ORPHA:140
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Abnormal bone ossification, Diaphyseal undertubulation, Met...	ORPHA:175
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hy...	OMIM:620210
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Microretrognathia, Optic nerve hypoplasia, Cerebellar atrophy, Cerebra...	ORPHA:468631
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto...	ORPHA:3392
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Cardiomyopathy, Splenomegaly, Polycystic ovaries, Increased body weight, Abnor...	ORPHA:264580
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Congestive heart failure, Elbow flexion contracture, Arterial rupture, Generalized jo...	ORPHA:1900
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Atresia of the external auditory canal, Overlapping toe, Limited elbow extension, ...	OMIM:123790
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B...	OMIM:224400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Palmoplantar keratoderma, Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversi...	OMIM:611528
Hyperlysinemia, Type I	Hyperactivity, Short attention span, Cognitive impairment, Dysdiadochokinesis	OMIM:238700
Björnstad Syndrome	Hypogonadism, Sensorineural hearing impairment	ORPHA:123
Say-Barber-Miller Syndrome	Optic atrophy, Patellar hypoplasia, Elbow flexion contracture, Low-set, posteriorly rotated ears,...	ORPHA:3132
Spinocerebellar Ataxia Type 21	Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell...	ORPHA:98773
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Image Syndrome	Micromelia, Hypogonadism, Cryptorchidism, Adrenal hypoplasia, Metaphyseal dysplasia	ORPHA:85173
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Potocki-Lupski Syndrome	EEG abnormality, Hypothyroidism, Hearing impairment	OMIM:610883
Hyperparathyroidism-Jaw Tumor Syndrome	Elevated circulating parathyroid hormone level, Shortened QT interval, Pancreatic adenocarcinoma,...	ORPHA:99880
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive...	OMIM:610042
Craniofrontonasal Syndrome	Axillary pterygium, Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux...	OMIM:304110
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Congestive heart failure, Lymphopenia, Hepatosplenomegaly, ...	ORPHA:391487
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Short toe, Frontal bossing, Thumb contracture,...	ORPHA:171929
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea	ORPHA:247257
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Type I diabetes mellitus, Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral...	OMIM:616192
Familial Dysautonomia	Recurrent fractures, Hypohidrosis, Orthostatic hypotension, Hyperhidrosis, Tachycardia, Hypertens...	ORPHA:1764
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Infancy onset short-trunk short stature, Talipes, Pes planus, Short ...	ORPHA:508488
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,...	ORPHA:95496
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Optic atrophy, Small hand, Cupped ear, Hearing impairment, Clinodactyly, Cerebral a...	OMIM:309590
Branchiootic Syndrome	Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can...	ORPHA:52429
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Low-set ears, Short iliac bones...	ORPHA:3003
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Plagiocephaly, Intrauterine growth retardation, Cryptorchidism, Talipes, Hypothyroidi...	ORPHA:453499
Dyskeratosis Congenita	Bone marrow hypocellularity, Coarse metaphyseal trabecularization, Palmoplantar keratoderma, Neop...	ORPHA:1775
Congenital Myopathy 10A, Severe Variant	Respiratory distress	OMIM:614399
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Otosclerosis 11	Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im...	OMIM:620576
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Short toe, Widely spaced toes, Tricuspid regurgitation, Obesity, Mitral ...	ORPHA:404443
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Hypothyroidism, ...	OMIM:617763
Isolated Atp Synthase Deficiency	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Hypogonadism, Sensorineural hearing...	ORPHA:254913
Osteogenesis Imperfecta	Abnormal tibia morphology, Genu valgum, Micrognathia, Decreased skull ossification, Bowing of the...	ORPHA:666
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Failure to thrive, Heart murmur, Abnormality of cartilage of ex...	ORPHA:3426
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia, Osteoarthritis	ORPHA:93283
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Lathosterolosis	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Anisopoikilocytosis, 2-4 toe cutaneous ...	OMIM:607330
Tatton-Brown-Rahman Syndrome	Patellar subluxation, Optic nerve hypoplasia, Sagittal craniosynostosis, Talipes valgus	OMIM:615879
Allan-Herndon-Dudley Syndrome	Decreased body mass index, Failure to thrive in infancy, Abnormality of thyroid physiology, Crypt...	ORPHA:59
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Joint stiffness, Mitral regurgitation, Generalize...	ORPHA:423461
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonad...	OMIM:614837
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Cerebellar atrophy, Hearing impairment, Parietal cortical atrophy, Abno...	ORPHA:412057
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Small hand, Decreased response to growth hormone ...	OMIM:300845
Spinocerebellar Ataxia With Epilepsy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Sensorineural hearing impairment	ORPHA:2668
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Genu valgum, Micrognathia, Type II diabetes mellitus, Pes planus, Splayed toes,...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Genu valgum, Micrognathia, Type II diabetes mellitus, Pes planus, Splayed toes,...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Genu valgum, Micrognathia, Type II diabetes mellitus, Pes planus, Splayed toes,...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Genu valgum, Micrognathia, Type II diabetes mellitus, Pes planus, Splayed toes,...	ORPHA:881
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Osteopenia, Epistaxis, Failure to thrive, Gout, Pulmonary ...	ORPHA:79259
Spinocerebellar Ataxia, Autosomal Recessive 13	Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis	OMIM:614831
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Sandal gap, Scaphocephaly, Micrognathia, Joint hypermobility, 2-3...	OMIM:614099
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea	ORPHA:70589
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Deafness, Autosomal Dominant 36	Tinnitus, Sensorineural hearing impairment	OMIM:606705
Deafness, Autosomal Dominant 43	Tinnitus, Sensorineural hearing impairment	OMIM:608394
Deafness, Autosomal Dominant 33	Tinnitus, Sensorineural hearing impairment	OMIM:614211
Deafness, Autosomal Dominant 64	Tinnitus, Sensorineural hearing impairment	OMIM:614152
Deafness, Autosomal Dominant 67	Tinnitus, Sensorineural hearing impairment	OMIM:616340
Deafness, Autosomal Dominant 72	Tinnitus, Sensorineural hearing impairment	OMIM:617606
Deafness, Autosomal Dominant 82	Tinnitus, Sensorineural hearing impairment	OMIM:619804
Deafness, Y-Linked 1	Tinnitus, Sensorineural hearing impairment	OMIM:400043
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Hip contracture, Short ribs, ...	OMIM:156400
Athyreosis	Thyroid agenesis, Hypothyroidism	ORPHA:95713
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Low-set ears, Toe syndactyly, 3-4 toe syndactyly, Clinodactyly of the 5th finger, Joint hypermobi...	OMIM:300707
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology, Sensorineural hearing impairment	ORPHA:3225
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration	ORPHA:713
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Metatarsus valgus, Joint hypermobility, Hypothyroidism, Genu varum, Tap...	ORPHA:2479
Acromelic Frontonasal Dysostosis	Low-set ears, Optic nerve hypoplasia, Short tibia, Parietal foramina, Patellar hypoplasia, Preaxi...	OMIM:603671
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Sensorineural hearin...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Sensorineural hearin...	ORPHA:529808
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Neutropenia, Abnormal proportion of naive CD4 T cells, Im...	ORPHA:1830
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Decreased response to growth hormone stimulation test, Postnatal growth ret...	OMIM:213980
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,...	ORPHA:1827
Spondyloenchondrodysplasia	Vasculitis, Hypoplastic ilia, Short distal phalanx of finger, Granuloma, Decreased response to gr...	ORPHA:1855
Hajdu-Cheney Syndrome	Osteopenia, Foot acroosteolysis, Failure to thrive, Pathologic fracture, Genu valgum, Fibular bow...	OMIM:102500
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,...	ORPHA:3258
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Increased skull ossification, Micromelia, Broad long bone...	ORPHA:1422
Combined Oxidative Phosphorylation Deficiency 18	Dysmetria, Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Beta-Thalassemia	Cholelithiasis, Hypertrophic cardiomyopathy, Microcytic anemia, Abnormal hemoglobin, Splenomegaly...	ORPHA:848
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Arterial Tortuosity Syndrome	Rocker bottom foot, Avascular necrosis of the capital femoral epiphysis, Clinodactyly of the 5th ...	ORPHA:3342
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Hartsfield Syndrome	Hypoplasia of the frontal bone, Ectrodactyly, Cryptorchidism, Gonadotropin deficiency, Craniosyno...	OMIM:615465
46,Xy Partial Gonadal Dysgenesis	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Ovarian gonadoblastoma...	ORPHA:251510
Hawkinsinuria	Hypothyroidism	ORPHA:2118
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Cousin Syndrome	Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Hearing impairment, Hypoplasti...	OMIM:260660
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Talipes, Reduced bone mineral density, Short metacarpal	ORPHA:2611
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Hippocampal atrophy, Decreased response...	OMIM:618922
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Anhidrosis, Short stature, Craniosynostosis, Recurrent fractures	ORPHA:251004
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait	OMIM:616795
X-Linked Adrenoleukodystrophy	Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, C...	ORPHA:43
Srd5A3-Cdg	Optic atrophy, Cerebellar atrophy, Optic disc hypoplasia, Decreased response to growth hormone st...	ORPHA:324737
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Obesity, Arrhythmia, Hypothyroidism, Short fourth metatarsal, Sh...	OMIM:600430
Odontochondrodysplasia	Cone-shaped epiphysis, Square pelvis bone, Micromelia, Joint hypermobility, Bowing of the long bo...	ORPHA:166272
Lopes-Maciel-Rodan Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Dystonia	OMIM:617435
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism	OMIM:264300
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density, Hypergonadotropic hypogonadism	ORPHA:1399
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy...	ORPHA:352649
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ...	ORPHA:2658
Tibial Hemimelia	Absent tibia	OMIM:275220
Pseudohypoparathyroidism Type 1A	Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metacarpal, ...	ORPHA:79443
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Congenital hypothyroidism, Retinal detachment, Bilateral sensorineural hearing impairment, Thyroi...	ORPHA:521445
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Craniometadiaphyseal Dysplasia	Osteopenia, Absent paranasal sinuses, Flared metaphysis, Broad long bones, Sclerosis of skull bas...	OMIM:269300
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Microtia, first degree, Aplasia of the inner ear, Micrognathia, Profound sensorineural hearing im...	OMIM:610706
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Rickets, Diabetes mellitus	OMIM:616026
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the l...	ORPHA:3035
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Stt3B-Cdg	Respiratory distress, Cryptorchidism	ORPHA:370924
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Wiedemann-Rautenstrauch Syndrome	Clinodactyly, Micrognathia, Cryptorchidism, Talipes equinovarus, Large hands, Genu varum, Hypopla...	OMIM:264090
Intellectual Developmental Disorder, X-Linked 107	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:301013
Estrogen Resistance	Osteopenia, Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Incr...	OMIM:615363
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Primary Sclerosing Cholangitis	Osteopenia, Spider hemangioma, Type I diabetes mellitus, Cholelithiasis, Palmar telangiectasia, C...	ORPHA:171
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly	ORPHA:1035
Waardenburg Syndrome, Type 2E	Hypopigmentation of the fundus, Ocular albinism, Aplasia of the semicircular canal, Abnormal morp...	OMIM:611584
7Q11.23 Microduplication Syndrome	Tracheomalacia, Abnormal earlobe morphology, Hearing impairment, Low-set, posteriorly rotated ear...	ORPHA:96121
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Short toe, Micrognathia, Joint hypermobility, Limb undergrowth, Short phalanx of fing...	OMIM:225410
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Glycogen Storage Disease Ib	Gout, Splenomegaly, Pancreatitis, Delayed puberty, Pancreatic fibrosis, Neutropenia, Osteoporosis...	OMIM:232220
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Noonan Syndrome 3	Low-set ears, Frontal bossing, Scaphocephaly, Sagittal craniosynostosis, Left unilambdoid synosto...	OMIM:609942
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Stiff-Person Syndrome	Hyperhidrosis, Anemia, Tachycardia, Hypertension, Diabetes mellitus	OMIM:184850
Nievergelt Syndrome	Genu valgum, Pes cavus, Radioulnar synostosis, Talipes equinovarus, Metatarsus adductus, Tarsal s...	OMIM:163400
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	EEG abnormality, Hypothyroidism, Cryptorchidism	OMIM:613970
Hypermanganesemia With Dystonia 2	Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa...	OMIM:617013
Stuve-Wiedemann Syndrome 2	Respiratory distress	OMIM:619751
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Decreased circulating dehydroepiandrosterone concentration, Carpal...	OMIM:201750
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Joint stiffness, Cerebral ischemia, Genu valgum,...	ORPHA:394
Retinitis Pigmentosa	Optic atrophy, Conductive hearing impairment, Hypogonadism, Hyperinsulinemia, Attenuation of reti...	ORPHA:791
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive heart failure, Hype...	ORPHA:280365
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Micrognathia, Down-sloping shoulders, Decreased body weight, Joint ...	ORPHA:391408
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio...	OMIM:609136
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Osteopenia, Supernumerary nipple, Cryptorchidism, Metopic synostosis...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Osteopenia, Supernumerary nipple, Cryptorchidism, Metopic synostosis...	ORPHA:352665
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Limitation of joint mobility, Micromelia, Broad long bones, Clubbing of fingers...	ORPHA:1865
Osteogenesis Imperfecta, Type Viii	Osteopenia, Disproportionate short-limb short stature, Radial bowing, Slender long bone, Femoral ...	OMIM:610915
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Delayed cranial suture closure, Decreased testicular size, Intrauterine growth reta...	ORPHA:93325
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Glycogen Storage Disease Ia	Gout, Pancreatitis, Delayed puberty, Osteoporosis, Hypertension	OMIM:232200
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Capillary fr...	ORPHA:99889
Marfanoid-Progeroid-Lipodystrophy Syndrome	Intrauterine growth retardation, Scaphocephaly, Arachnodactyly, Pes valgus, Pes planus, Long fing...	OMIM:616914
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Low-set ears, Optic atrophy, Ulnar deviation of finger, Hearing impairment, Clinodactyly, Sandal ...	OMIM:618164
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocorticotropic hormon...	OMIM:615926
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Elevated circulating parathyroid hormone level, Metacarpal periosteal thickening, Cal...	OMIM:617994
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Joint hypermobility, Arachnodactyly, Hypo...	OMIM:619013
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr...	ORPHA:2769
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism	OMIM:615597
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Joint contracture	OMIM:616881
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Clinodactyly, Slender long bone, Failure to thrive in infancy, Decrease...	OMIM:613385
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst...	OMIM:128100
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity...	OMIM:607483
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Small ante...	OMIM:210600
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress	OMIM:616974
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Hypothyroidism, Absent brainstem auditory respon...	ORPHA:79330
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis	OMIM:620023
Congenital Disorder Of Glycosylation, Type Ih	Low-set ears, Decreased circulating T4 concentration, Hypothyroidism, Cryptorchidism	OMIM:608104
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Cystathioninuria	Tremor	ORPHA:212
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Internal hemorrhage, Tachyc...	ORPHA:335
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Decreased calvarial ...	OMIM:617866
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Cardiofaciocutaneous Syndrome 3	Failure to thrive, Hypertrophic cardiomyopathy, Hyperhidrosis, Reduced bone mineral density, Pulm...	OMIM:615279
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Cerebrotendinous Xanthomatosis	Cholelithiasis, Ankle clonus, Angina pectoris, Osteoporosis, Myocardial infarction	OMIM:213700
Glycerol Kinase Deficiency	Pathologic fracture, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryp...	OMIM:307030
Ohdo Syndrome, Sbbys Variant	Low-set ears, Hearing impairment, Cryptorchidism, Hypothyroidism, Posteriorly rotated ears	OMIM:603736
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,...	ORPHA:96
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Cerebrotendinous Xanthomatosis	Osteopenia, Cholelithiasis, Abnormal tibia morphology, Abnormality of the plantar skin of foot, A...	ORPHA:909
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Carpenter Syndrome 2	Low-set ears, Broad thumb, Cutaneous finger syndactyly, Sensorineural hearing impairment, Talipes...	OMIM:614976
Perry Syndrome	Parkinsonism, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Aggressive behavior, Hyperactiv...	ORPHA:3077
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi...	ORPHA:90652
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Craniosynostosis, Micrognathia, Frontal bossing	ORPHA:1064
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Reduced bone mineral density, Large knee	ORPHA:83629
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Curry-Jones Syndrome	Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ...	OMIM:601707
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Femoral bowing, Limited elbow extension, Knee ...	OMIM:618019
Deafness, Autosomal Recessive 103	Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment	OMIM:616042
Cranioectodermal Dysplasia 2	Low-set ears, Mesomelia, Rhizomelia, Plagiocephaly, Clinodactyly, Micrognathia, Joint hypermobili...	OMIM:613610
45,X/46,Xy Mixed Gonadal Dysgenesis	Ovarian serous cystadenoma, Bilateral cryptorchidism, Decreased serum testosterone concentration,...	ORPHA:1772
Perrault Syndrome 2	Streak ovary, Sensorineural hearing impairment	OMIM:614926
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Micrognathia, Pulmonary arterial hypertensi...	OMIM:614921
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abnormal diaphysis morpholog...	ORPHA:354
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Low-set ears, Hypothyroidism, Posteriorly rotated ears	OMIM:619750
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Type I diabetes mellitus, Failure to thrive, Decreased circulati...	OMIM:614700
Trichothiodystrophy	Diffuse cerebellar atrophy, Osteopenia, Cerebral cortical atrophy, Joint dislocation, Multiple jo...	ORPHA:33364
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Cranial hyperostosis, Clinodactyly, ...	ORPHA:2710
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Osteopenia, Growth delay, Insulin-resistant diabetes mellitus, De...	OMIM:248370
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Type I diabetes mellitus, Decreased circulating I...	OMIM:620430
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Hyperhidrosis	ORPHA:79264
7Q31 Microdeletion Syndrome	Low-set ears, Plagiocephaly, Clinodactyly of the 2nd finger, Prominent fingertip pads, Childhood ...	ORPHA:251061
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Titubation, Dysmetria, Ataxia	OMIM:619405
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Tremor, Dystonia, Babinski sign, Parkins...	OMIM:300055
Omenn Syndrome	Failure to thrive, Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinop...	ORPHA:39041
Reni Syndrome	Hypogonadism, Adrenal insufficiency, Cryptorchidism, Sensorineural hearing impairment, Hypothyroi...	OMIM:617575
Acrorenal-Mandibular Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture...	OMIM:200980
Graft Versus Host Disease	Failure to thrive, Hemophagocytosis, Hepatosplenomegaly, Dupuytren contracture, Limited elbow mov...	ORPHA:39812
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased r...	OMIM:610978
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Short iliac bones, Lymphopenia, Metaphyseal sclerosis, Sclerosis of skull b...	OMIM:607944
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Exocrine pancreatic insufficiency, Sensorineural heari...	ORPHA:456312
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thrombocytopenia, ...	ORPHA:49827
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Adrena...	ORPHA:99827
Glass Syndrome	Micrognathia, Arachnodactyly, Talipes equinovarus, Camptodactyly, Generalized osteoporosis, Anter...	OMIM:612313
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio...	OMIM:171420
Cockayne Syndrome B	Small for gestational age, Square pelvis bone, Failure to thrive, Limitation of joint mobility, H...	OMIM:133540
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Lysinuric Protein Intolerance	Failure to thrive, Hemophagocytosis, Pulmonary hemorrhage, Leukopenia, Splenomegaly, Pancreatitis...	OMIM:222700
Choanal Atresia	Craniosynostosis, Tracheomalacia, Polydactyly	ORPHA:137914
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Pes cavus, Cervical spinal cord atrophy, Sensorineural heari...	ORPHA:101085
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Cerebellar vermis atrophy, Hypothyroidism,...	OMIM:618347
O'Sullivan-Mcleod Syndrome	Eosinophilia, Tremor, Fasciculations	ORPHA:99965
Spinocerebellar Ataxia Type 27	Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia	ORPHA:98764
Hyperlysinemia	Hypoplastic helices, Craniosynostosis, Hypoplasia of the antihelix, EEG with spike-wave complexes	ORPHA:2203
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Weight loss, Iron deficiency anemia, Os...	ORPHA:309031
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Occipital Horn Syndrome	Genu valgum, Limited elbow extension, Short humerus, Joint hypermobility, Short clavicles, Pes pl...	OMIM:304150
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Bowing of the long bones, Brachydactyly, Pancreatic cysts, Abnormal...	ORPHA:1318
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Failure to thrive, Joint stiffness, Limb undergrowth, Brachydactyl...	ORPHA:2107
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormal optic nerve morphology, Abnormality of the submand...	ORPHA:79078
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Absent thumb, Short thumb, Short 1st metacarpal, Decreased response ...	OMIM:609053
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Obesity, Arrhythmia, Ventricular tachycardia, Pro...	ORPHA:26793
Degcags Syndrome	Toe syndactyly, Hepatosplenomegaly, Genu valgum, Micrognathia, Cryptorchidism, Pancytopenia, Tali...	OMIM:619488
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, Frequent falls	OMIM:210000
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Naxos Disease	Palmoplantar keratoderma, Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventri...	ORPHA:34217
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari synd...	OMIM:127550
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Pituitary hypothyroidism, Anterior pituitary hypoplasia	OMIM:619983
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Slender long bone, Joint hypermobility, Spina bifida occulta, Reduced bone miner...	ORPHA:1185
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Palmoplantar hyperkeratosis, Thromboc...	OMIM:224230
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Tetanus	Stiff neck, Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Hypertrophic cardiomyopathy, Premature thelarche, Ventricular tachycardia, Hy...	OMIM:616878
Microcephalic osteodysplastic primordial dwarfism, type III	Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital femoral epiphysis, Disloc...	OMIM:210730
X-Linked Charcot-Marie-Tooth Disease Type 5	Paraparesis, Tremor, Ataxia	ORPHA:99014
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Protruding ear, Hypothyroidism, Posteriorly rotated ears, Microtia	OMIM:618829
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Babinski sign, Ataxia, Dystonia	OMIM:607694
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins...	ORPHA:48818
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Gabriele-De Vries Syndrome	Sandal gap, Decreased response to growth hormone stimulation test, Breast hypoplasia, Intrauterin...	ORPHA:506358
Relapsing Fever	Epistaxis, Hypotension, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Tachyca...	ORPHA:91547
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Failure to thrive, Increased circulating IgE level, Decreased FOXP3-exp...	OMIM:304790
Phace Association	Optic atrophy, Congenital hypothyroidism, Lingual thyroid, Increased retinal vascularity, Horner ...	OMIM:606519
Acquired Methemoglobinemia	Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morp...	ORPHA:50945
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism	OMIM:619908
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Gastrointestinal hemorrhage, Congenital hip dislocation, Congestive heart failure, Ar...	OMIM:225400
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp...	OMIM:271665
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Low-set ears, Hypothyroidism, Cryptorchidism, Sensorineural hearing impairment	ORPHA:85321
1P31P32 Microdeletion Syndrome	Craniosynostosis, Frontal bossing	ORPHA:401986
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Tricuspid regurgitation, Monkey wr...	OMIM:618870
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Intellectual Disability-Strabismus Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Decreased response to growth hormone st...	ORPHA:363528
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Joint hyperm...	ORPHA:1488
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Low-set, posteriorly rotated ears, M...	ORPHA:958
Microlissencephaly-Micromelia Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Micromelia, Failure to t...	ORPHA:50810
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	ORPHA:542310
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Hypothyroidism	ORPHA:2349
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Finger syndactyly, Micrognathia, Abnormality of the lower limb, Telangiectasia of...	ORPHA:1556
Monosomy 18P	Protruding ear, Hypothyroidism, Abnormal antihelix morphology, Macrotia	ORPHA:1598
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Joint dislocation, Prominent fingertip pads, Tracheomalacia, Decreased respon...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Joint dislocation, Prominent fingertip pads, Tracheomalacia, Decreased respon...	ORPHA:363958
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Bilateral cryptorchidism, Asymmetry of the ears, Cryptorchidism, Sensorineural hear...	OMIM:617796
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Anterior hypopituitarism, Micrognathia, S...	OMIM:241800
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea	ORPHA:86812
Neurodegeneration With Brain Iron Accumulation 2B	Mental deterioration, Short attention span, Gait ataxia, Dysmetria, Hyperactivity, Bradykinesia, ...	OMIM:610217
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Polydactyly, Hyperhidrosis, Flexion contracture, Growth delay, Short femur	ORPHA:17
Bacterial Toxic-Shock Syndrome	Hypotension, Septic arthritis, Shock, Osteomyelitis, Abscess, Abnormality of the lower limb, Incr...	ORPHA:36234
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Polycystic ovaries, Increased body weight, Anemia, Osteoporosis	ORPHA:79240
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ...	ORPHA:488434
Infantile Neuroaxonal Dystrophy	Mental deterioration, Short attention span, Choking episodes, Gait disturbance, Hyperactivity, At...	ORPHA:35069
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac...	OMIM:612158
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Postnatal growth retardation, Micrognathia, Cryptorchidism, Co...	ORPHA:2323
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Failure to thrive, Micrognathia, Recurrent fractures,...	OMIM:609465
B4Galt1-Cdg	Low-set ears, Hypothyroidism	ORPHA:79332
Primary Biliary Cholangitis	Abnormality of the thyroid gland, Portal hypertension, Splenomegaly, Increased circulating IgA le...	ORPHA:186
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ...	ORPHA:263297
Opitz Gbbb Syndrome	Low-set ears, Tracheomalacia, Hearing impairment, Micrognathia, Large fontanelles, Craniosynostos...	ORPHA:2745
Kenny-Caffey Syndrome, Type 2	Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Anemia, Hy...	OMIM:127000
Cockayne Syndrome Type 1	Optic atrophy, Male hypogonadism, Pigmentary retinopathy, Hearing impairment, Abnormality of peri...	ORPHA:90321
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Inability to walk, Obsessive-compulsive trait, Aggressive behavior, Gait di...	ORPHA:168491
Marfan Syndrome	Aortic regurgitation, Osteopenia, Congestive heart failure, Slender build, Micrognathia, Mitral r...	ORPHA:558
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Osteo...	OMIM:620366
Fucosidosis	Hypothyroidism, Hyperhidrosis, Hearing impairment	ORPHA:349
Branchioskeletogenital Syndrome	Large earlobe, Upper limb peromelia, Thickened calvaria, Attached earlobe, Brachycephaly, Amelia ...	ORPHA:1299
Spondyloocular Syndrome	Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture, Long toe, Pes...	OMIM:605822
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormality...	ORPHA:3157
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Dystonia	OMIM:208920
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress	ORPHA:254875
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Subdural hemorrhage, Shoulder dislocation, Knee dislocati...	ORPHA:536545
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Rickets, Failure to thrive	OMIM:607765
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:300894
Mesomelia-Synostoses Syndrome	Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Hearing impairment, Micromelia, Progres...	OMIM:600383
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Congenital sensorineural hearing impairment, Hypothyroidism, Sensorineural hearing impairment	OMIM:619147
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Talipes equinovarus, Hyperhidrosis, Bradycardia, Retinal hemorrhage, Tachycardia,...	OMIM:614653
Hennekam Syndrome	Low-set ears, Conductive hearing impairment, Finger syndactyly, Camptodactyly of finger, Abnormal...	ORPHA:2136
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Usher Syndrome, Type Ig	Abnormal vestibular function, Rod-cone dystrophy, Sensorineural hearing impairment	OMIM:606943
Fragile X Tremor/Ataxia Syndrome	Hypothyroidism, Hearing impairment	OMIM:300623
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Micrognathia, Joint hypermobility, Talipes, Talipes equinovarus, ...	OMIM:300990
Menkes Disease	Gastrointestinal hemorrhage, Osteomyelitis, Micrognathia, Intracranial hemorrhage, Joint hypermob...	ORPHA:565
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Recurrent fractures, Cryptorchidism, Arachnodactyly, Slender toe...	ORPHA:3063
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Hypohidrosis	ORPHA:1882
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Low-set ears, Cerebral cortical atrophy, Plagiocephaly, Toe syndacty...	OMIM:607932
Cntnap2-Related Developmental And Epileptic Encephalopathy	Mental deterioration, Abnormal temper tantrums, Self-mutilation, Stereotypical hand wringing, Ski...	ORPHA:163681
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, Joint hype...	OMIM:259770
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnormal sacroiliac ...	ORPHA:2655
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
Maternal Uniparental Disomy Of Chromosome 2	Abnormality of the ankle, Contractures of the large joints, Preaxial hand polydactyly, Decreased ...	ORPHA:96179
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Primrose Syndrome	Genu valgum, Cryptorchidism, Hip contracture, Knee flexion contracture, Hypothyroidism, Narrow il...	OMIM:259050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Osteopenia, Type I diabetes mellitus, Short toe, Obesity, Clinodactyly of the...	OMIM:619269
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Stiff Person Spectrum Disorder	Hypothyroidism, Diabetes mellitus, Hyperhidrosis	ORPHA:3198
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress	OMIM:615042
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Low-set ears, Frontal bossing, Overfolded helix, Joint hypermobility, Craniosynostosis, Thickened...	OMIM:617506
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Recurrent otitis media, Optic d...	OMIM:608940
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom...	ORPHA:2839
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Micrognathia, Atrioventricular dissociation, ...	OMIM:142900
Lig4 Syndrome	Failure to thrive, Plantar warts, Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Telang...	OMIM:606593
Maternal Uniparental Disomy Of Chromosome 9	Congenital hypothyroidism	ORPHA:96183
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges...	ORPHA:137675
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Leber Hereditary Optic Neuropathy	Arrhythmia, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
17Q11 Microdeletion Syndrome	Precocious puberty, Osteopenia, Elevated circulating parathyroid hormone level, Leukemia, Hypertr...	ORPHA:97685
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t...	OMIM:616331
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Micromelia, Crumpled long bones, Protrusio acetabuli, Decreased calvarial...	OMIM:610682
Waisman Syndrome	Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t...	OMIM:311510
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Joint hypermobility	ORPHA:2220
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Inappropriate laughter, Gait imbalance, Short attention span, Abnormal eating b...	ORPHA:98794
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Decreased response to growth hormone stimulation test, Hypothyroidism, Delayed puberty, Progressi...	OMIM:619234
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Hypothyroidism	ORPHA:752
Campomelic Dysplasia	Delayed epiphyseal ossification, Low-set ears, Hypoplastic scapulae, Hypoplastic cervical vertebr...	OMIM:114290
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocy...	OMIM:620365
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg...	OMIM:604169
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Combined Oxidative Phosphorylation Deficiency 33	EEG with burst suppression, Hypothyroidism, Sensorineural hearing impairment	OMIM:617713
Nipah Virus Disease	Respiratory distress	ORPHA:99825
14Q11.2 Microduplication Syndrome	Hypothyroidism, Obesity, Micrognathia	ORPHA:261229
Oncogenic Osteomalacia	Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo...	ORPHA:352540
Dystonia 28	Precocious puberty, Clinodactyly of the 5th finger, Hypothyroidism	ORPHA:589618
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De...	ORPHA:206436
Immunodeficiency 31C	Osteopenia, Osteomyelitis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism...	OMIM:614162
Sepsis In Premature Infants	Hypotension, Leukocytosis, Splenomegaly, Decreased body weight, Neutropenia, Bradycardia, Anemia,...	ORPHA:90051
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent...	OMIM:613424
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Pancreatitis, Osteomalacia	OMIM:600740
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea	ORPHA:178320
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Hallermann-Streiff Syndrome	Small hand, Tracheomalacia, Congestive heart failure, Micrognathia, Cryptorchidism, Short ribs, H...	ORPHA:2108
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Incr...	OMIM:617052
Congenital Disorder Of Deglycosylation 1	Small hand, Decreased body weight, Hyperhidrosis, Anhidrosis, Osteoporosis, Short foot	OMIM:615273
Peters-Plus Syndrome	Square pelvis bone, Postnatal growth retardation, Micrognathia, Cryptorchidism, Broad foot, Limit...	OMIM:261540
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Limb undergrowth, Flexion contracture, Small for gestational age	ORPHA:79243
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Equinovarus deformity, Congenital hypothyroidis...	ORPHA:79500
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Cryptorchidism, Fibular hypoplasia, Short rib...	ORPHA:3144
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Decreased circulating IgG level, Congestive heart failure, Hypertrop...	ORPHA:505248
Cystinosis, Nephropathic	Male hypogonadism, Rickets, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thri...	OMIM:219800
X-Linked Cerebral Adrenoleukodystrophy	Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Short ...	ORPHA:139396
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
X-Linked Centronuclear Myopathy	Respiratory distress	ORPHA:596
Lysinuric Protein Intolerance	Osteopenia, Failure to thrive, Hemophagocytosis, Decreased response to growth hormone stimulation...	ORPHA:470
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy, Clinodactyly, Lymphopenia, Pes cavus, Cryptorchidism, Hypothyroidism, Lim...	OMIM:616541
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Acromesomelic Dysplasia 4	Mesomelia, Rhizomelia, Radial bowing, Third degree atrioventricular block, Short toe, Short finge...	OMIM:619636
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Wolf-Hirschhorn Syndrome	Short thumb, Failure to thrive, Preaxial hand polydactyly, Abnormal foot morphology, Micrognathia...	ORPHA:280
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving bones of the skull, Plagiocephaly, Supernumerary nipple, Craniosynos...	ORPHA:1521
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Failure to thrive, Extramedullary hematopoiesis	ORPHA:79303
Singleton-Merten Syndrome 1	Aortic valve stenosis, Osteopenia, Shallow acetabular fossae, Expanded metatarsals with widened m...	OMIM:182250
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Cryptorchidism	ORPHA:1145
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Generalized dystonia, Intention tremor, Tremor, Progressive spastic quadriple...	OMIM:312080
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa...	ORPHA:240071
Isolated Exencephaly	Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia	ORPHA:563612
Porphyria Variegata	Anemia, Tachycardia, Inappropriate antidiuretic hormone secretion, Hypertension	ORPHA:79473
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Large for gestational age, Hypoplastic pelvis, Micrognathia, Polyd...	OMIM:612731
Alkaptonuria	Aortic valve stenosis, Calcification of cartilage, Joint stiffness, Hemolytic anemia, Reduced bon...	ORPHA:56
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Joint hypermobility, Brachydactyly, M...	OMIM:612813
Otopalatodigital Syndrome, Type Ii	Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Fibular aplasia, Micrognathia, Large fontanelles, Ar...	OMIM:300373
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Broad phalanges of the hand, Joint stiffness, Mitral regurgitation, Brachy...	OMIM:277600
Dpm1-Cdg	Sandal gap, Failure to thrive, Long hallux, Hepatosplenomegaly, Micrognathia, Knee flexion contra...	ORPHA:79322
Kallmann Syndrome	Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Pes cavus, Re...	ORPHA:478
Acetazolamide-Responsive Myotonia	Hypothyroidism	ORPHA:99736
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Failure to thrive	ORPHA:411629
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts, Hypoplastic pelvis, Early ossifica...	OMIM:208500
Treacher-Collins Syndrome	Failure to thrive, Micrognathia, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adr...	ORPHA:861
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh...	ORPHA:139411
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Tachypnea, Increased circulating procalcitonin concentration, Dyspnea, Diab...	ORPHA:36238
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Type I diabetes mellitus, Clinodactyly, Failure to thrive in infancy, Hepatosplenomegaly, Pancyto...	ORPHA:228426
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Oculoskeletodental Syndrome	Hypothyroidism, Hearing impairment, Cryptorchidism	OMIM:618440
Mucopolysaccharidosis Type 4	Abnormal epiphysis morphology, Genu valgum, Abnormal metaphysis morphology, Joint hypermobility, ...	ORPHA:582
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Dpagt1-Cdg	Clinodactyly, Failure to thrive, Arachnodactyly, Anemia, Camptodactyly, Prolonged QT interval, Os...	ORPHA:86309
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Abnormal hip bone morphology, Abnormal thumb morphol...	ORPHA:1597
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Abnormal epiphysis morphology, Micromelia, Hypoplastic iliac wing, Joint hype...	ORPHA:2637
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hemangioma	OMIM:608799
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy...	OMIM:614381
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Microretrognathia, Short finger, Decreased testicular size, Clinodactyly of the 5...	ORPHA:459070
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Silver-Russell Syndrome Due To A Point Mutation	Low-set ears, Hypothyroidism, Cryptorchidism	ORPHA:397590
Chromosome 14Q11-Q22 Deletion Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Cryptor...	OMIM:613457
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Overlapping toe, Micrognathia, O...	ORPHA:401973
High Altitude Pulmonary Edema	Tachycardia, Leukocytosis	ORPHA:330012
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Low-set ears, Abnormal cortical gyration, Hearing impairment, Abnormality of thyroid physiology, ...	OMIM:300968
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Bilateral cryptorchidism, Hypothyroidism, Atrophy/Degeneration affecting the brain...	ORPHA:66634
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, R...	OMIM:216400
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Pathologic fracture, Hypersplenism, Splenomegaly, Decreased serum ins...	ORPHA:77293
Smith-Magenis Syndrome	Precocious puberty, Toe syndactyly, Failure to thrive in infancy, Obesity, Micrognathia, Joint st...	ORPHA:819
Glutamine Deficiency, Congenital	Camptodactyly, Flexion contracture, Micromelia, Bradycardia	OMIM:610015
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Congestive heart failure, Short finger, Elbow...	OMIM:608328
Distal Xq28 Microduplication Syndrome	Hypothyroidism, Microtia, Absent antihelix	ORPHA:293939
Zttk Syndrome	Low-set ears, Optic atrophy, Small hand, Joint hypermobility, Protruding ear, Craniosynostosis, F...	OMIM:617140
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Finger syndactyly, A...	ORPHA:2753
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Genu valgum, Mitral regurgitation, Talipes equinovarus, Pes planus, Flatte...	OMIM:143095
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul...	OMIM:212138
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Absent nipple, Bilateral conductive hearing impairment, Progressive sensorineural h...	OMIM:620186
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Micrognathia, Abnormal metacarpal morphology, Absent radius, Absent e...	OMIM:268300
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto...	OMIM:115310
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Hypopituitarism, Polydactyly affecting the 4th finger...	ORPHA:672
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Fontaine Progeroid Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Absent nipple, Intrauterine growth reta...	OMIM:612289
Marbach-Rustad Progeroid Syndrome	Micrognathia, Right bundle branch block, Short clavicles, Femur fracture, Pulmonary insufficiency...	OMIM:619322
Intellectual Developmental Disorder, Autosomal Dominant 45	Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:617600
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Desmosterolosis	Micromelia, Failure to thrive, Micrognathia, Splenomegaly, Talipes, Osteopetrosis, Metatarsus add...	ORPHA:35107
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Failure to thrive, Microcytic anemia, Micrognathia, Splenomegaly, Pes p...	OMIM:619525
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea	ORPHA:2759
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple	ORPHA:2519
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Splenomegaly, Autoimmune hemolytic anemia, Congestive heart failure	ORPHA:90037
Naxos Disease	Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Right ventricular car...	OMIM:601214
Williams Syndrome	Synostosis of joints, Genu valgum, Micrognathia, Mitral regurgitation, Type II diabetes mellitus,...	ORPHA:904
Alexander Disease	Precocious puberty, Osteopenia, Hypotension, Failure to thrive, Hypothyroidism, Hyperhidrosis, Su...	ORPHA:58
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Budd-Chiari syndrome, Hypothyroidism, Iron deficiency anemia, Thrombocytosis,...	OMIM:226300
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Abnormal metaphysis morphology, Agammaglobulinemia, Long fibula, Anemia, Reduced bon...	ORPHA:935
Poland Syndrome	Small hand, Acute leukemia, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism,...	ORPHA:2911
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168600
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Cupped ear, Prominent fingertip pads, Sandal gap, Low-set, posteriorly rotated ears, ...	ORPHA:363611
Thanatophoric Dysplasia Type 2	Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abnormal metaphysis...	ORPHA:93274
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Arterial rupture, Reduced bone mineral density, Recurrent fractures, Joint hypermobility	OMIM:619115
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Wilson Disease	Osteomalacia, Splenomegaly, Joint hypermobility, Anemia, Osteoarthritis, Thrombocytopenia, Hypopa...	OMIM:277900
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Myelodysplasia	ORPHA:927
Danon Disease	Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q...	OMIM:300257
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi...	OMIM:606367
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Failure to thrive, Pulmonary arterial hypertension, Megaloblastic anemia, Neutropeni...	OMIM:277400
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia	OMIM:616586
Ring Chromosome 12 Syndrome	Low-set ears, Breast hypoplasia, Cryptorchidism, Hypothyroidism, Microtia	ORPHA:1439
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Hardikar Syndrome	Failure to thrive, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Splenomegaly, Impaired...	OMIM:301068
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Decreased circulating IgG level, Failure to thrive, Cardiomyopathy, Decreased circula...	OMIM:212065
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi...	ORPHA:1667
Autosomal Dominant Dopa-Responsive Dystonia	Hypothyroidism, Hearing impairment	ORPHA:98808
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Proteus Syndrome	Low-set ears, Finger syndactyly, Exostosis of the external auditory canal, Abnormal metacarpal mo...	ORPHA:744
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Bilateral cryptorchidism	OMIM:300219
Lig4 Syndrome	Acute leukemia, Pancytopenia, Micrognathia, Type II diabetes mellitus, Cryptorchidism, Leukocytos...	ORPHA:99812
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Small hand, Plagiocephaly, Optic nerve hypoplasia, Hearing impairment, Finger clinodactyly, Neuro...	OMIM:620455
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Camptodactyly of finger, Protrusio acetabuli, Mitral regurgitation, Interve...	ORPHA:284984
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation, Micrognathia,...	OMIM:236680
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Type I diabetes mellitus	OMIM:620166
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Dilated cardiomyopathy, Foot joint contracture, Mitten deformity, Iron deficiency ane...	ORPHA:79408
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Osteootohepatoenteric Syndrome	Failure to thrive, Avascular necrosis of the capital femoral epiphysis, Weight loss, Hip dysplasi...	OMIM:619377
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi...	ORPHA:199351
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Osteopenia, Increased circulating prolactin concentration, Cryptorchidism, Jo...	ORPHA:438213
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Leukocy...	ORPHA:90065
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Hypoplastic pelvis...	ORPHA:2616
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea	OMIM:614299
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Failure to thrive, Hypertrophic cardiomyopathy, Transient ischemic attack, Heart murm...	ORPHA:365
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Br...	OMIM:187601
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Palmoplantar keratoderma, Failure to thrive, Congestive heart failure, Ve...	OMIM:605676
Duane Retraction Syndrome	Plagiocephaly, Hearing impairment, Preaxial hand polydactyly, Narrow internal auditory canal, Ste...	ORPHA:233
Ogden Syndrome	Torsade de pointes, Micrognathia, Cryptorchidism, Premature ventricular contraction, Arrhythmia, ...	OMIM:300855
Moebius Syndrome	Respiratory distress, Decreased testicular size, Hypogonadotropic hypogonadism	OMIM:157900
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Failure to thrive, Slender build, Pancytopenia, Portal hypertension, Joint h...	OMIM:613658
Kagami-Ogata Syndrome	Micrognathia, Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypertension, Limb undergrowth,...	OMIM:608149
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea	ORPHA:1302
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Cholelithiasis, Pancreatic hypoplasia, Brachyturricephaly, Postnatal gr...	ORPHA:83617
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Shock, Lymphopeni...	ORPHA:99826
Martin-Probst Syndrome	Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Hypoplastic nipples, Hypothyroidism	OMIM:300519
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Abn...	ORPHA:534
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar...	OMIM:618569
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio...	OMIM:171300
Tako-Tsubo Cardiomyopathy	Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit...	ORPHA:66529
Parkinson Disease 20, Early-Onset	Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia	OMIM:615530
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Mild hearing impairment, Recurrent otitis media, Anotia, Pteryg...	OMIM:616462
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Micrognathia, Aplasia/Hypoplasia of the inner ear...	ORPHA:2306
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Osteoporosis, Tracheomalacia, Failure to thrive, Bile duct proliferation	OMIM:203700
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Micrognat...	ORPHA:798
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes	ORPHA:70588
Deeah Syndrome	Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorchidism, Decrea...	OMIM:619004
Becker Nevus Syndrome	Lower limb asymmetry, Micromelia, Supernumerary nipple, Abnormal tibia morphology, Spina bifida o...	ORPHA:64755
Kinsship Syndrome	Mesomelia, Osteopenia, Failure to thrive, Micrognathia, Polydactyly, Fibular hypoplasia, Pes plan...	OMIM:619297
Adiposis Dolorosa	Xerostomia, Obesity, Hypothyroidism, Telangiectasia of the skin, Arthritis	ORPHA:36397
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Delayed cranial suture c...	OMIM:309350
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Leukocytosis, Decreased ...	ORPHA:340
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormal hip bone morphology, Arachnodactyly, Abnormality of neutrophils, Red...	ORPHA:2720
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Pedal edema, Systolic heart murmur, Right ventricular failure, ...	ORPHA:99103
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ...	ORPHA:90033
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress	OMIM:250940
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemol...	OMIM:615952
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Dilated cardiomyopathy, Failure to thrive, Mitten deformity, Brady...	ORPHA:79404
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Tuberous Sclerosis Complex	Pituitary adenoma, Respiratory distress, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, R...	ORPHA:805
Monosomy 18Q	Aortic valve stenosis, Secondary growth hormone deficiency, Failure to thrive, Congestive heart f...	ORPHA:1600
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hyporeflexia of lower limbs, Elbow flexion contra...	ORPHA:98855
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Thrombocytosis, Leukocytosis, Arrhythmia, H...	ORPHA:94093
Diarrhea 10, Protein-Losing Enteropathy Type	Low-set ears, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Cry...	OMIM:618183
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
Hydranencephaly	Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema	ORPHA:2177
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Rabson-Mendenhall Syndrome	Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Retinopathy, H...	ORPHA:769
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Failure to thrive, Exocrine pancreatic insufficiency, Ulnar deviation of the 2nd finger, Ulnar de...	OMIM:616263
Methimazole Embryofetopathy	Hypothyroidism, Abnormality of the thyroid gland	ORPHA:1923
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia	ORPHA:90036
Gitelman Syndrome	Hypotension, Failure to thrive, Palpitations, Ventricular tachycardia, Delayed puberty, Prolonged...	OMIM:263800
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Micromelia	OMIM:273680
Chitayat Syndrome	Respiratory distress	OMIM:617180
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Williams-Beuren Syndrome	Osteopenia, Failure to thrive in infancy, Obesity, Clinodactyly of the 5th finger, Supravalvular ...	OMIM:194050
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contracture	OMIM:620232
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Micromelia, Short foot, Short palm	ORPHA:238750
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Splenomegaly, Cachexia, Hypothyroidism, Anemia, Arthrit...	ORPHA:3452
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Joint hypermobility, Brachydactyly, Mesomelia	ORPHA:171866
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hypohidrosis	ORPHA:1812
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Truncal ataxia, Limb ataxia, Persistence of hemoglobin F	OMIM:617101
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short stature, Tapered finger, Short humerus, Short femur	OMIM:618367
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he...	ORPHA:90068
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Irregular respiration	OMIM:604377
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Loeys-Dietz Syndrome 1	Low-set ears, Micrognathia, Joint hypermobility, Protruding ear, Arachnodactyly, Talipes equinova...	OMIM:609192
Cystic Fibrosis	Osteopenia, Decreased body mass index, Failure to thrive, Exocrine pancreatic insufficiency, Oste...	ORPHA:586
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Hypomagnesemia 3, Renal	Rickets, Elevated circulating parathyroid hormone level, Failure to thrive, Genu valgum, Hyperten...	OMIM:248250
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:98853
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Alfadhel Syndrome	Nasal flaring	OMIM:620655
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Exocrine pancreatic insufficiency, Absent Achilles reflex, Overlapping toe, Fibul...	OMIM:618268
Familial Glucocorticoid Deficiency	Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating...	ORPHA:361
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Mitral regurgitation, Limited elbow movement, Limb undergrowth, Brachydacty...	OMIM:617809
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Thin bony cortex...	OMIM:619727
Fanconi-Bickel Syndrome	Rickets, Failure to thrive, Osteomalacia	OMIM:227810
Lymphatic Malformation 6	Cupped ear, Hearing impairment, Hypothyroidism, Hydrocele testis, Abnormal pinna morphology	OMIM:616843
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Babinski ...	OMIM:614298
Hepatoerythropoietic Porphyria	Osteopenia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, Osteolysis	ORPHA:95159
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Congenital Erythropoietic Porphyria	Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm...	ORPHA:79277
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Hypothyroidism, Hypohidrosis, Brachydactyly, Hypoparathyroidism	ORPHA:1563
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Palmoplantar keratoderma, Ventricular tachycardia	OMIM:615821
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism,...	OMIM:305000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Adrenal hypoplasia, Thyroid hypoplasia, Abnorm...	ORPHA:2166
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Scorpion Envenomation	Acute pancreatitis, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch ...	ORPHA:466677
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Obesity, Joint st...	ORPHA:98863
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Melas	Optic atrophy, Type I diabetes mellitus, Pigmentary retinopathy, Cerebral cortical atrophy, Type ...	ORPHA:550
Raine Syndrome	Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Brachydactyly, Subperiosteal bon...	OMIM:259775
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Primary hypothyroidism	OMIM:225050
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension, Hyperhidrosis	ORPHA:43116
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Rickets, Failure to thrive, Osteomalacia, Camptod...	OMIM:309000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland	OMIM:619479
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Recurrent patellar disl...	OMIM:619143
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Optic atrophy, Global brain atrophy, Absent thumb, Hearing impairment, Slender long...	ORPHA:500150
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Tachypnea, Exertional dyspnea, Dyspnea	OMIM:610921
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hearing impairment, Abnormality of exocrine pancreas physiology, Aplasia/Hypoplasia of the pancre...	ORPHA:93111
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Mesomelia, Rhizomelia, Brain abscess, Congestive heart failure, Femoral bowing, Tibial bowing, Pa...	OMIM:616482
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Micromelia, Nonopposable triphalangeal thumb, Hypoplasia of the radius	ORPHA:2252
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Ankle flexion contracture, Camptodactyly of finger, Contracture of the distal interphalangeal joi...	OMIM:617072
Triosephosphate Isomerase Deficiency	Normocytic anemia, Spasticity, Splenomegaly, Macrocytic anemia, Tremor, Dystonia, Hemolytic anemi...	OMIM:615512
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Mental deterioration, Akinesia, Obsessive-compulsive trait, Gait disturbance, Motor ...	OMIM:234200
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Dilated cardiomyopathy	OMIM:618321
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Distal Renal Tubular Acidosis	Rickets, Failure to thrive, Osteomalacia, Hemolytic anemia, Increased susceptibility to fractures...	ORPHA:18
Eisenmenger Syndrome	Elevated jugular venous pressure, Clubbing, Pedal edema, Right ventricular failure, Tricuspid reg...	ORPHA:97214
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r...	ORPHA:2021
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Tremor, Schistocytosis, Thrombocytopenia	OMIM:274150
Phace Syndrome	Retinal vascular malformation, Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid	ORPHA:42775
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Mercury Poisoning	Tachycardia, Hypotension, Hypertension	ORPHA:330021
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Dyspnea	OMIM:211530
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Micrognathia, Cryptorchidism, Tibia...	OMIM:612651
Jung Syndrome	Hypothyroidism	ORPHA:2321
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Absent distal phalanges, Joint hypermobility, Arachn...	OMIM:610168
Abetalipoproteinemia	Osteopenia, Failure to thrive, Congestive heart failure, Pes cavus, Acanthocytosis, Reticulocytos...	ORPHA:14
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Loeys-Dietz Syndrome 3	Aortic regurgitation, Osteopenia, Hip osteoarthritis, Protrusio acetabuli, Mitral regurgitation, ...	OMIM:613795
Avian Influenza	Respiratory distress, Tachypnea, Dyspnea	ORPHA:454836
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Hearing impairment, Congenital stationary night blindness, Abno...	ORPHA:314621
Robinow Syndrome, Autosomal Recessive 2	Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac...	OMIM:618529
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Limitation of joint mobility, Limited hip movement, Micrognathia, Mitral r...	ORPHA:740
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Palmoplantar keratoderma, Tricus...	OMIM:620519
Aa Amyloidosis	Adrenal insufficiency, Hypothyroidism	ORPHA:85445
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Tarsal sclerosis, Small for gestational age, Failure to thrive, Scler...	ORPHA:404454
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca...	ORPHA:31826
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress	OMIM:619383
Purine Nucleoside Phosphorylase Deficiency	Tetraparesis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Tremor, Neutropenia in pres...	OMIM:613179
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Hypoplasia of the radius, Brachy...	OMIM:617895
Steinert Myotonic Dystrophy	Male hypogonadism, Dilated cardiomyopathy, Cholelithiasis, Decreased response to growth hormone s...	ORPHA:273
Cardiospondylocarpofacial Syndrome	Low-set ears, Cone-shaped epiphysis, Conductive hearing impairment, Fusion of middle ear ossicles...	OMIM:157800
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hypothyroidism, Chronic otitis media, Thyroiditis	ORPHA:83471
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly, Hypothyroidism, Failure to thrive	OMIM:618999
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Splenomegaly, Broad foot, Short...	OMIM:269860
Generalized Arterial Calcification Of Infancy	Osteomalacia, Adrenal calcification, Failure to thrive in infancy, Transient ischemic attack, Lef...	ORPHA:51608
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Pmm2-Cdg	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Increased circulating...	ORPHA:79318
Agnathia-Otocephaly Complex	Respiratory distress	OMIM:202650
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Palmoplantar keratoderma, Growth delay	ORPHA:79396
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Limb undergrowth, Bilateral breast hypoplasia, Hip dysplasia, Clinodactyly of the 5th fi...	ORPHA:319675
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea	ORPHA:2707
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida...	OMIM:606002
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Hypothyroidism, Macrotia	ORPHA:457212
Neuroblastoma	Respiratory distress, Neoplasm of the nervous system, Elevated circulating catecholamine level, N...	ORPHA:635
Charge Syndrome	Postnatal growth retardation, Micrognathia, Cryptorchidism, Radial head subluxation, Absent radiu...	OMIM:214800
Koolen-De Vries Syndrome	Protruding ear, Overfolded helix, Hypothyroidism, Cryptorchidism	ORPHA:96169
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Norrie Disease	Optic atrophy, Abnormal helix morphology, Abnormal chorioretinal morphology, Cryptorchidism, Sens...	ORPHA:649
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension, Episodic hyperhidrosis	OMIM:223900
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Cryptorchidism, Bowing of the long bones, Talipes equinovarus, Short lo...	OMIM:224410
Porphyria, Acute Intermittent	Tachycardia, Hypertension, Reduced erythrocyte porphobilinogen deaminase activity	OMIM:176000
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Cryptorchidism...	OMIM:270400
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Micrognathia, Hypothyroidism, Clinodactyly of the 5th finger, Acute lymphob...	ORPHA:1052
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased circulating total IgG, Osteomalacia, Osteomyelitis, ...	OMIM:619381
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress	OMIM:619272
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Lymphopenia, Decreased proportion of CD4-posit...	OMIM:208900
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon...	ORPHA:90647
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Renal Nutcracker Syndrome	Syncope, Weight loss, Orthostatic hypotension, Anemia, Tachycardia	ORPHA:71273
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Robinow Syndrome	Mesomelia, Short distal phalanx of finger, Small for gestational age, Decreased serum testosteron...	ORPHA:97360
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Talipes equinovarus, Micrognathia	OMIM:601374
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Plagiocephaly, Cupped ear, Tracheomalacia, Hearing impairment, Conductive hearing imp...	ORPHA:444077
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Tuberous Sclerosis 2	Precocious puberty, Hearing impairment, Hypothyroidism, Achromatic retinal patches, Adenoma sebac...	OMIM:613254
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Diaphanospondylodysostosis	Respiratory distress, Nephroblastomatosis	OMIM:608022
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Joint hypermobility, Angina pectoris, Te...	ORPHA:758
Dysbetalipoproteinemia	Obesity, Gout, Angina pectoris, Hypothyroidism, Acute pancreatitis, Diabetes mellitus	ORPHA:412
Kasabach-Merritt Phenomenon	Neoplasm of the skin, Hypopnea, Capillary hemangioma, Respiratory distress, Hemangioma, Tufted an...	ORPHA:2330
Cholera	Tachycardia, Hypotension, Hypovolemic shock, Palmoplantar cutis laxa	ORPHA:173
Mirizzi Syndrome	Cholelithiasis, Pancreatitis, Gallbladder perforation, Abnormal ductus choledochus morphology, Ta...	ORPHA:521219
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy	ORPHA:159
Sotos Syndrome	Ankle flexion contracture, Conductive hearing impairment, Hearing impairment, Cerebral atrophy, H...	ORPHA:821
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Anterior pi...	ORPHA:177907
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
14Q22Q23 Microdeletion Syndrome	Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormalit...	ORPHA:264200
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis	ORPHA:300298
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Postnatal growth retardation, Fibular aplasia, Micrognathia, Pr...	ORPHA:3404
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Bilateral cryptorchidism, Oligodactyly, Hypoplas...	OMIM:263650
Pachyonychia Congenita	Respiratory distress, Steatocystoma multiplex	ORPHA:2309
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Congenital hypothyroidism	OMIM:601427
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Aspartylglucosaminuria	Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, Abnormal morphology of ulna, Pe...	ORPHA:93
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Exertional dyspnea, Hypoventilation	ORPHA:98915
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma	ORPHA:3309
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Rodrigues Blindness	Nasal flaring	OMIM:268320
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Cardiomyopathy, Hypothyroidism, Ne...	ORPHA:445038
Loeys-Dietz Syndrome	Joint dislocation, Camptodactyly of finger, Micrognathia, Joint hypermobility, Arachnodactyly, Pe...	ORPHA:60030
Acute Intermittent Porphyria	Tachycardia, Hypertension, Hyperhidrosis	ORPHA:79276
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Overlapping toe, Thrombocytopenia, Ventricular arrhythmia, Increased mean ...	OMIM:620475
Mosaic Trisomy 9	Limitation of joint mobility, Micromelia, Finger clinodactyly, Camptodactyly of finger, Deep plan...	ORPHA:99776
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Cardiac Diverticulum	Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Aplasia/Hypoplasia of the sternum,...	ORPHA:1686
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Acute leukemia, Synostosi...	ORPHA:289
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Truncus Arteriosus	Aortic regurgitation, Aplasia/hypoplasia involving bones of the extremities, Abnormal heart valve...	ORPHA:3384
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Cryptorchidism, Anterior pituitary hypoplasia	OMIM:206900
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Hypothyroidism	OMIM:251900
Apert Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Cervical C5/C6 vertebrae fusion, Apla...	ORPHA:87
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress	ORPHA:367
Auriculocondylar Syndrome	Respiratory distress, Hamartoma of tongue	ORPHA:137888
Aminopterin/Methotrexate Embryofetopathy	Micromelia, Finger syndactyly, Micrognathia, Talipes, Aplasia/Hypoplasia of the thumb, Mesomelia	ORPHA:1908
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Overlapping toe, Cryptorchidism, Pes planus, Cerebral hemorrhage, Clinodactyl...	OMIM:616682
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Nephrotic Syndrome, Type 1	Hypothyroidism	OMIM:256300
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Leukocyte Adhesion Deficiency Type Ii	Failure to thrive, Microcytic anemia, Overlapping toe, Leukocytosis, Limb undergrowth, Abnormal i...	ORPHA:99843
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Cryptorchidism	OMIM:217980
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea	OMIM:610913
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Exertional dyspnea	OMIM:220110
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Cryptorchidism, Premature ventricular contraction, Hypertension, Wide anterior...	OMIM:620504
Galloway-Mowat Syndrome 10	Congenital hypothyroidism	OMIM:619609
Robinow Syndrome, Autosomal Dominant 1	Mesomelia, Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial...	OMIM:180700
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Broad hallux, Micromelia, Hyposegmentation of neutrophil nuclei, Brachydactyly, Synda...	OMIM:614800
Cornelia De Lange Syndrome 1	Finger aplasia, Micromelia, Hypoplastic radial head, Elbow flexion contracture, Micrognathia, Lim...	OMIM:122470
Intrahepatic Cholestasis Of Pregnancy	Hypothyroidism, Abnormal pineal melatonin secretion	ORPHA:69665
Cardiac-Urogenital Syndrome	Accessory spleen, Tracheomalacia, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, ...	OMIM:618280
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Annular pancreas	ORPHA:210122
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism	ORPHA:505395
Lead Poisoning	Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia, Poor gross motor coordinatio...	ORPHA:330015
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Seckel Syndrome 7	Central hypothyroidism	OMIM:614851
Aicardi-Goutieres Syndrome 1	Vasculitis, Cardiomyopathy, Splenomegaly, Hypothyroidism, Thrombocytopenia, Diabetes insipidus	OMIM:225750
Japanese Encephalitis	Respiratory distress, Inappropriate antidiuretic hormone secretion, Abnormal pattern of respirati...	ORPHA:79139
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Cryptorchidism, Anterior pituitary hypoplasia	ORPHA:464306
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Shwachman-Diamond Syndrome 1	Respiratory distress, Acute myeloid leukemia, Myelodysplasia	OMIM:260400
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea	OMIM:608013
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Tricuspid regurgitation, Micrognathia, Cryptorchidism, Brachydactyly, ...	OMIM:616894
White-Kernohan Syndrome	Low-set ears, Recurrent otitis media, Simple ear, Hypothyroidism, Macrotia	OMIM:619426
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Pancytopenia, Hemolytic anemia, Splenomega...	OMIM:615846
Microform Holoprosencephaly	Panhypopituitarism, Hypothyroidism, Maternal diabetes	ORPHA:280200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Small pituitary gland, Thyroid hypoplasia,...	OMIM:619503
Schisis Association	Small for gestational age, Micromelia	ORPHA:63862
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress	OMIM:617303
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, Congestive heart failure, Breast aplasia, Supraventricular tachyc...	OMIM:181270
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Weight loss, Increased susceptibility to fractures, Osteomalacia	ORPHA:3337
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	OMIM:231680
Developmental And Epileptic Encephalopathy 89	Talipes equinovarus, Flexion contracture, Microretrognathia, Limb undergrowth	OMIM:619124
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Mgat2-Cdg	Respiratory distress, Hypoplastic nipples, Abnormality of the endocrine system	ORPHA:79329
Dyschondrosteosis-Nephritis Syndrome	Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing, Ulnar bowing	ORPHA:1765
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Hydrolethalus	Micrognathia, Micromelia, Cryptorchidism, Postaxial hand polydactyly	ORPHA:2189
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress	OMIM:616271
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Acute megakaryocytic...	OMIM:190685
Interstitial Lung And Liver Disease	Failure to thrive, Hypothyroidism, Thrombocytosis, Anemia, Clubbing	OMIM:615486
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Dyspnea, Neoplasm	ORPHA:1546
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Radio-Renal Syndrome	Respiratory distress, Dyspnea	ORPHA:3015
Presynaptic Congenital Myasthenic Syndromes	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Episodic respira...	ORPHA:98914
Congenital Myasthenic Syndrome	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Episodic respira...	ORPHA:590
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Anterior pituitary hypoplasia	OMIM:151050
Leukocyte Adhesion Deficiency	Coronal craniosynostosis, Osteomyelitis, Intrauterine growth retardation, Hyperinsulinemic hypogl...	ORPHA:2968
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Micrognathia, Heart block	ORPHA:1964
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Pearson Syndrome	Pigmentary retinopathy, Hearing impairment, Decreased response to growth hormone stimulation test...	ORPHA:699
Familial Hypocalciuric Hypercalcemia	Pancreatitis, Osteomalacia	ORPHA:405
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea	ORPHA:100050
Malignant Hyperthermia Of Anesthesia	Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou...	ORPHA:423
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Hypothyroidism, Abnormal autonomic nervous...	ORPHA:93256
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal	OMIM:600092
Autosomal Recessive Robinow Syndrome	Mesomelia, Short distal phalanx of finger, Broad thumb, Toe syndactyly, Synostosis of carpal bone...	ORPHA:1507
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Absent or minimally oss...	ORPHA:93271
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cerebral cortical atrophy, Abnormal optic chiasm morphology, Hearing impairment, Decreased respon...	ORPHA:268261
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Isolated Biliary Atresia	Failure to thrive, Hypopituitarism, Atretic gallbladder, Splenomegaly, Severe failure to thrive, ...	ORPHA:30391
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
1P36 Deletion Syndrome	Dilated cardiomyopathy, Lower limb asymmetry, Failure to thrive, Annular pancreas, Camptodactyly ...	ORPHA:1606
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Spastic paraplegia, Abnormal hemoglobin	ORPHA:847
Microphthalmia, Syndromic 2	Aortic valve stenosis, 2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Ad...	OMIM:300166
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Joint hypermobility, Craniosynostosis, Frontal bossing, Recurrent fractures	OMIM:147060
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Failure to thrive, Oligodactyly, Jo...	ORPHA:199
Neuromuscular Oculoauditory Syndrome	Respiratory distress	OMIM:618733
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress	OMIM:183900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Secondary Short Bowel Syndrome	Central hypothyroidism, Primary hypothyroidism	ORPHA:95427
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Respiratory distress, Episodic respiratory distres...	ORPHA:1199
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Spasticity	OMIM:301040
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad hallux, Recurrent otitis media, Long hallux, Genu valgum, Sensorineural hearing impairment,...	ORPHA:261537
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval	ORPHA:542306
Townes-Brocks Syndrome 1	Broad thumb, Small for gestational age, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepip...	OMIM:107480
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Apnea, Hypopnea	OMIM:618426
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Hypoplastic n...	OMIM:181450
Histidinemia	Hyperactivity	ORPHA:2157
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Beckwith-Wiedemann Syndrome	Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Abnormal pancreas morphology, Exoc...	ORPHA:116
Plague	Hypotension, Splenomegaly, Arrhythmia, Hematemesis, Arthritis, Tachycardia	ORPHA:707
Congenital Myopathy 22B, Severe Fetal	Respiratory distress	OMIM:620369
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Aplasia/Hypoplastia of the eccrine sweat glands, Hypoplastic nipples, Absen...	OMIM:305100
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation ...	OMIM:256520
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea	ORPHA:2131
Lujo Hemorrhagic Fever	Respiratory distress	ORPHA:319213
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Recurrent otitis media, Long hallux, Genu valgum, Sensorineural hearing impairment, Arachnodactyl...	ORPHA:261552
Syndromic Diarrhea	Aortic regurgitation, Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thym...	ORPHA:84064
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Hypogonadism, Decrea...	ORPHA:110
Coffin-Siris Syndrome 12	Low-set ears, Prominent antihelix, Hippocampal atrophy, Large earlobe, Cryptorchidism, Sensorineu...	OMIM:619325
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Optic disc colobo...	OMIM:607872
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress	ORPHA:255210
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Micromelia, Camptodactyly of finger, Avascular necrosis of the capital femoral...	ORPHA:3107
Meier-Gorlin Syndrome 1	Respiratory distress, Breast hypoplasia, Cryptorchidism	OMIM:224690
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Bilateral cryptorchidism, Supernumerary nipple, Cryptorchidism, Delayed puberty, Anterior pituita...	ORPHA:466791
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block, Failure to thrive	OMIM:610131
Legius Syndrome	Acute monocytic leukemia, Polydactyly, Paroxysmal atrial tachycardia, Clinodactyly of the 5th fin...	ORPHA:137605
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Dyspnea, Myeloproliferative disorder, Myelodysplasia	ORPHA:3260
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism	ORPHA:514
Adnp Syndrome	Respiratory distress, Cryptorchidism	ORPHA:404448
Digeorge Syndrome	Low-set ears, Cholelithiasis, Parathyroid hypoplasia, Recurrent otitis media, Ovarian cyst, Parat...	OMIM:188400
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress	OMIM:620278
Supranuclear Palsy, Progressive, 1	Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Parkinsonism, Bradykinesia, Eyelid ...	OMIM:601104
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Hepatocellular carcinoma	OMIM:256810
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia,...	ORPHA:2255
Chilton-Okur-Chung Neurodevelopmental Syndrome	Cryptorchidism, Anterior pituitary hypoplasia	OMIM:619841
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea	OMIM:261740
Nocardiosis	Respiratory distress, Abnormality of the adrenal glands, Dyspnea, Thyroiditis	ORPHA:31204
Tuberous Sclerosis 1	Precocious puberty, Achromatic retinal patches, Hypothyroidism, Adenoma sebaceum	OMIM:191100
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress	ORPHA:308552
Juvenile Nephropathic Cystinosis	Hypothyroidism, Abnormal long bone morphology, Failure to thrive, Hypovolemia	ORPHA:411634
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j...	ORPHA:51
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Congenital hypothyroidism, Micrognathia, Crypt...	ORPHA:709
Smith-Lemli-Opitz Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger s...	ORPHA:818
Genitopatellar Syndrome	Congenital hip dislocation, Inferior pubic ramus hypoplasia, Micrognathia, Patellar aplasia, Hip ...	OMIM:606170
Q Fever	Respiratory distress	ORPHA:781
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micromelia, Failure to thrive in infancy, Micrognat...	ORPHA:1308
Rubinstein-Taybi Syndrome 1	Capillary hemangioma, Respiratory distress, Bilateral cryptorchidism, Neoplasm, Cryptorchidism, P...	OMIM:180849
Toxic Epidermal Necrolysis	Respiratory distress	ORPHA:537
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress	ORPHA:79282
Coccidioidomycosis	Respiratory distress, Abnormality of the endocrine system	ORPHA:228123
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Abnormal testis morphology	ORPHA:2556
Townes-Brocks Syndrome	Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Failure to thrive, Lowe...	ORPHA:857
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress	OMIM:617156
Viss Syndrome	Increased circulating IgE level, Genu valgum, Micrognathia, Contracture of the proximal interphal...	OMIM:619472
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Congenital Tracheomalacia	Dyspnea, Apnea, Intercostal retractions	ORPHA:95430
Oculopharyngodistal Myopathy 1	Respiratory distress	OMIM:164310
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Postaxial polydactyly	OMIM:616546
Listeriosis	Respiratory distress	ORPHA:533
Neurooculorenal Syndrome	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Central hypothyroidism, De...	OMIM:620305
Scimitar Syndrome	Respiratory distress	ORPHA:185
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hamartoma	OMIM:617088
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Failure to thrive, Exocrine pancreatic insufficiency, Portal hypertension...	OMIM:243800
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea	ORPHA:141127
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring	ORPHA:466943
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia	ORPHA:1675
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Neoplasm, Hypoplastic nipples, Delayed puberty, Abnormal circulating thyroi...	ORPHA:480880
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress	OMIM:306955
Biliary, Renal, Neurologic, And Skeletal Syndrome	Diabetes insipidus, Bile duct proliferation, Anterior pituitary hypoplasia	OMIM:619534
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh...	OMIM:620066
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Leprechaunism	Hyperaldosteronism, Hyperinsulinemia, Central hypothyroidism, Increased circulating renin level	ORPHA:508
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Cryptorchidism, Limb undergrowth, Cutane...	ORPHA:2052
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy	OMIM:309801
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype...	ORPHA:99125
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Acute myelomonocytic leukemia, Respiratory distress, Cavernous hemangioma of the face, Multiple e...	ORPHA:99646
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress	OMIM:614748
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress	ORPHA:95455
Leptospirosis	Respiratory distress	ORPHA:509
Alström Syndrome	Testicular fibrosis, Precocious puberty in females, Puberty and gonadal disorders, Elevated circu...	ORPHA:64

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 Thrb

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 Thrb.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Thrb^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Thrb^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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