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Ontology Browser
Term:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (DOID:9009255)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Acro-Osteolysis +   
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Angel Shaped Phalangoepiphyseal Dysplasia 
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS  
Au-Kline Syndrome  
Baby Rattle Pelvis Dysplasia 
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome +   
Blount's disease 
BOUDIN-MORTIER SYNDROME  
Brachymesomelia Renal Syndrome 
Brittle Bone Disorder 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cervical Vertebral Dysplasia 
CHOPS Syndrome  
clubfoot +   
Conductive Deafness with Ptosis and Skeletal Anomalies 
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
craniolenticulosutural dysplasia  
developmental dysplasia of the hip +   
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Disproportionate Tall Stature  
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
Elsahy-Waters syndrome  
EVEN-PLUS SYNDROME  
Fountain Syndrome 
Fryns Hofkens Fabry Syndrome 
Fuhrmann syndrome  
Funnel Chest +   
Gigantism +   
Gorham's disease +   
Gracile Bone Dysplasia  
Gurrieri Sammito Bellussi Syndrome 
Hall Riggs Mental Retardation Syndrome 
Kantaputra Gorlin Syndrome 
KBG syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kyphomelic Dysplasia 
Leg Length Inequality 
Lenz-Majewski hyperostotic dwarfism  
Lethal Bone Dysplasia, Holmgren Type 
Lissencephaly Type III and Bone Dysplasia 
Macroepiphyseal Dysplasia, McAlister Coe Type 
mandibuloacral dysplasia +   
Marfan syndrome +   
Marshall-Smith syndrome  
Membranous Cranial Ossification, Delayed 
Mesomelic Limb Shortening and Bowing 
MICROMELIA  
Miura type epiphyseal chondrodysplasia  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
nevoid basal cell carcinoma syndrome +   
osteochondrodysplasia +   
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES  
A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes (PHA), short stature, and mild skeletal anomalies.
Platybasia +  
Pointer Syndrome 
Prenatal Bowing 
Proteus syndrome +   
Radius Absent Anogenital Anomalies 
Rhizomelic Dysplasia Patterson Lowry Type 
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Roifman-Chitayat Syndrome  
Santos Syndrome 
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHOX-related short stature  
Shwachman-Diamond Syndrome 2  
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal  
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 
split hand-foot malformation +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spranger Schinzel Myers Syndrome 
Stoll Levy Francfort Syndrome 
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
vitamin D-dependent rickets +   
Weismann Netter Syndrome 
Wiedemann Oldigs Oppermann Syndrome 

Synonyms
Exact Synonyms: PHASK ;   SKPHA ;   rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
Narrow Synonyms: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
Primary IDs: OMIM:618019
Definition Sources: OMIM:618019

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