Fg Syndrome Type 1 |
|
Finger syndactyly, Broad-based gait, Broad toe, Short stature, Hypospadias, Abnormal thumb morpho... |
ORPHA:93932 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... |
OMIM:113300 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Increased body weight, Compulsive behaviors, Atrial septal defect, Micropenis, Hypothalamic lutei... |
ORPHA:398069 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Dysmetria, Depression, Gait ataxia, Weight loss, Abnormal shoul... |
ORPHA:157941 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... |
OMIM:612079 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Micropenis, Hypothalamic luteinizing hormone-releasing hormone deficiency, ... |
ORPHA:398079 |
Dystonia 31 |
|
Abnormal posturing, Dysphagia, Difficulty walking, Depression |
OMIM:619565 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Short clavicles, Hypoplastic pelvis, Retrognathia |
OMIM:618022 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
Septooptic Dysplasia |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:182230 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Compulsive ... |
ORPHA:177907 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... |
ORPHA:208441 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Premature adrenarche, Short stature, Preco... |
ORPHA:739 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Short ... |
ORPHA:3157 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Rocker bottom foot, Patent foramen ovale, Dysphagia, Atrial septal defect, In... |
ORPHA:89844 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... |
ORPHA:66624 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad... |
ORPHA:95513 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Small hand, Obesity, Short foot, Attention deficit hyperactivity disorder, ... |
ORPHA:444002 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Hypospadias, Bowed humerus, Lateral ventricle dilatation, Short lo... |
OMIM:619479 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland, Delayed puberty, Micropenis |
OMIM:612702 |
Cog2-Cdg |
|
Psychomotor deterioration, Small pituitary gland, Decreased liver function |
ORPHA:435934 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Genu valgum, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Postnatal growth retardatio... |
ORPHA:391417 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... |
OMIM:219080 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Me... |
ORPHA:1827 |
Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... |
ORPHA:216866 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... |
ORPHA:453533 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... |
ORPHA:300385 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... |
ORPHA:3077 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Proportionat... |
OMIM:613457 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Elevated hemoglobin A1c, Sh... |
OMIM:616113 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Overweight, Self-mutilation... |
ORPHA:457240 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Shyness, Bilateral cryptorchidism, Chiari type I malformation, Atr... |
ORPHA:466791 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Ventricular septal defect,... |
OMIM:617751 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Small pituitary gland |
OMIM:617395 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Abnormal posturing, Dysphagia |
OMIM:304700 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kid... |
ORPHA:464306 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:615926 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Methylmalonic aciduria, Growth delay, Normochromic anemia, Neutropenia, Atrial se... |
OMIM:614857 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Failure to thrive, Syndactyly, Short stature, Anterior p... |
OMIM:151050 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp... |
ORPHA:264200 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... |
OMIM:173100 |
Vici Syndrome |
|
Lymphopenia, Failure to thrive, Cerebellar vermis hypoplasia, Recurrent respiratory infections, P... |
OMIM:242840 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Cerebellar vermis hypo... |
OMIM:619476 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... |
OMIM:619534 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Brachydactyly |
OMIM:614592 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Overlapping fingers, Short stature, Decreased r... |
OMIM:619004 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Mirage Syndrome |
|
Overlapping fingers, Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Hypospadi... |
OMIM:617053 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Depression, Increased circulating ... |
OMIM:615830 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele |
OMIM:614195 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles |
OMIM:168550 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short fourth metatarsal, Cerebellar vermis hypoplasia, Anterior pitu... |
OMIM:619841 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Severe B lymp... |
ORPHA:293978 |
47,Xyy Syndrome |
|
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Hydrocephalus, Increased circulating gon... |
ORPHA:8 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:2232 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplastic scapulae, Abnormal dental enamel mo... |
ORPHA:1452 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
48,Xxxy Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Down-sloping shoulders, Coxa valga, Crypto... |
ORPHA:96263 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Carious teeth, Micrognathia, Apl... |
OMIM:265800 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencephaly, Posterior pituitary agenesis... |
ORPHA:563612 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... |
ORPHA:91351 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Short attention span, Urinary incontinence, Recurrent upper respiratory tract infections, Gait at... |
ORPHA:225147 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Ventricular septal defect, Anterior pituitary hypoplasia, Short st... |
OMIM:206900 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Retrognathia, Finger joi... |
OMIM:212112 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... |
ORPHA:90793 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Sin... |
OMIM:601186 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly,... |
OMIM:615849 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Short 4th metacarpal, Short clavicles |
OMIM:606220 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Inability to walk, Depression, Dysphagia, Abnormal posturing |
OMIM:128100 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Bowing of the long bones, Micrognathia, Coxa valga, Hip dislocation, C... |
ORPHA:2484 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Mild postnatal growth retardation, Hip dysplasia, Abnormal temper tantrums... |
ORPHA:530983 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Holoprosencephaly 9 |
|
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
OMIM:610829 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Abnormal social behavior, Carcinoid tum... |
ORPHA:805 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Chiari type I malformation, Compulsive behaviors, Atrial septal defect, Ve... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Chiari type I malformation, Compulsive behaviors, Atrial septal defect, Ve... |
ORPHA:353277 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Micropenis, Slender long bone, Hypopla... |
OMIM:602361 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Purple urine, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced b... |
ORPHA:100924 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavi... |
ORPHA:309246 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Calcaneovalgus defo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Calcaneovalgus defo... |
ORPHA:363958 |
Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Short d... |
ORPHA:1512 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Abnorma... |
ORPHA:353281 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Metaphyseal widen... |
OMIM:615777 |
Hydranencephaly |
|
Postnatal growth retardation, Dilatation of the ventricular cavity, Thalamic edema, Intrauterine ... |
ORPHA:2177 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Progressive neurologic deterioration, Abnormal lung morphology, Progressi... |
ORPHA:646 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmo... |
OMIM:611812 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increased circulating... |
ORPHA:90791 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Urinary incontinence, Progressive psychomotor deterioration, Depression, Me... |
ORPHA:309271 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Slender long bone, Increased serum testosterone level, Intrauterine growth reta... |
ORPHA:96181 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Small hand, Short clavicles, Tapered finger |
ORPHA:401923 |
Mend Syndrome |
|
Hyperactivity, Short stature, Broad hallux, Overlapping toe, Aggressive behavior, Cryptorchidism,... |
ORPHA:401973 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Delayed eruption of primary teeth, Micrognathia, Short middle phalanx of th... |
OMIM:119600 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... |
OMIM:613677 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Increased circula... |
ORPHA:90790 |
Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly... |
ORPHA:370930 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Short clavicles, Steep acetabu... |
ORPHA:313855 |
Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Hypoplastic scapulae, Glenoid fossa hypoplasia, Arachnodactyly, Distal ulnar hypop... |
OMIM:600920 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Tetraamelia Syndrome 1 |
|
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Urethral atresia, Pulmonary hypopla... |
OMIM:273395 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Urinary incontinence, Progressive psychomotor deterioration, Progressive ga... |
ORPHA:309263 |
Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles |
ORPHA:60015 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Microgn... |
OMIM:309350 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Small cerebellar cortex, Adrenal hyperplasia, ... |
ORPHA:79500 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Aplastic clavicle, Micrognathia, Flared ... |
ORPHA:50945 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Dysmetria, Nephrocalcinosis, Compulsive... |
ORPHA:904 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Short clavicles |
OMIM:619322 |
Childhood Absence Epilepsy |
|
Urinary incontinence, Depression, Punding, Attention deficit hyperactivity disorder, Abnormal soc... |
ORPHA:64280 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Cholecystitis, Emotiona... |
ORPHA:309256 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased circulating dehy... |
OMIM:201810 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytop... |
OMIM:185070 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Aplastic clavicle, Carious teeth, Bifid femur, Aplasia/hypoplasia of the f... |
ORPHA:2769 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Cutaneous ... |
OMIM:601390 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Hypoplasia of teeth, Osteolytic defects of the distal phalanges of the hand, Short ... |
OMIM:608612 |
Mandibuloacral Dysplasia |
|
Micrognathia, Hypoplasia of teeth, Osteolytic defects of the distal phalanges of the hand, Short ... |
ORPHA:2457 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Cutaneous ... |
OMIM:615546 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Patellar apl... |
ORPHA:2554 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Short clavicl... |
OMIM:617746 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Metaphyseal dysplasia, Abnormality of the temporomandibular joint, Bowing of the l... |
ORPHA:536471 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Bowing of the legs, Hypoplasia of t... |
OMIM:200600 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long peni... |
OMIM:202010 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Down-sloping shoulders, Micrognathia, Coxa valga, Hypoplasia of teeth, Short clavicles, Osteolyti... |
OMIM:248370 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, D-2-h... |
ORPHA:99646 |
Occipital Horn Syndrome |
|
Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa... |
ORPHA:198 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Micrognathia, Coxa va... |
OMIM:130070 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Sp... |
ORPHA:2092 |
Sandifer Syndrome |
|
Abnormal posturing, Anemia |
ORPHA:71272 |
Chime Syndrome |
|
Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl... |
ORPHA:3474 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Sifrim-Hitz-Weiss Syndrome |
|
Short femoral neck, Short clavicles, Flat acetabular roof, Tapered finger |
OMIM:617159 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, A... |
ORPHA:2658 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, Ab... |
ORPHA:2538 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Aplastic clavicle, Micrognathia, Lar... |
ORPHA:2636 |
Unilateral Polymicrogyria |
|
Abnormal posturing, Pseudobulbar paralysis, Pulmonary arteriovenous malformation, Abnormal heart ... |
ORPHA:268943 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Metaphyseal widening, Flared iliac wing, Short clavic... |
OMIM:607014 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Inability to walk, Irritability, Uraciluria, Abnormal social behavior, Abno... |
ORPHA:1675 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Abnormal dental enamel morphology, Aplastic clavicle, Micrognathia |
ORPHA:85199 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Cerebellar hypoplasia, Nonprogressive cere... |
ORPHA:314647 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Supernumerary tooth, Postaxial hand polydactyly, Cone-shaped epiphysis, Sh... |
OMIM:617088 |
Floating-Harbor Syndrome |
|
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Carious teeth, Short middle p... |
OMIM:136140 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Aplastic clavicle |
OMIM:616546 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Absent hallux, Aplastic clavicle, Tap... |
OMIM:216340 |
Cdags Syndrome |
|
Short clavicles |
OMIM:603116 |
Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Persistence of primary teeth, Hypoplasia of the maxilla, Carious... |
ORPHA:2044 |
Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Genu valgum, Short clav... |
OMIM:304150 |
Restrictive Dermopathy 1 |
|
Natal tooth, Rocker bottom foot, Micrognathia, Temporomandibular joint ankylosis, Overtubulated l... |
OMIM:275210 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Persistence of primary teeth, Micrognathia, Coxa valga, Hip dislocatio... |
ORPHA:740 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Down-sloping shoulders, Agenesis of maxillary lateral incisor, Short clavicles, Radia... |
OMIM:309800 |